chrom large_stringclasses 8
values | start int64 10.1M 119M ⌀ | ref large_stringclasses 14
values | alt large_stringclasses 10
values | rsid large_stringlengths 8 12 ⌀ | allele_registry_id large_stringlengths 8 12 ⌀ | identity_derivation large_stringclasses 5
values | direction large_stringclasses 2
values | significance_raw large_stringclasses 2
values | evidence_direction_raw large_stringclasses 2
values | variant_id int64 113 3.74k | variant_name large_stringlengths 4 30 | gene large_stringclasses 20
values | evidence_id int64 980 12.7k | molecular_profile_id int64 113 3.61k | evidence_level large_stringclasses 3
values | rating int64 1 5 | variant_origin large_stringclasses 2
values | pmid large_stringclasses 82
values | disease large_stringclasses 20
values | doid large_stringclasses 20
values | civic_grch37_chrom large_stringclasses 9
values | civic_grch37_start int64 1.29M 177M ⌀ | evidence_status large_stringclasses 1
value |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
3 | 10,142,009 | GG | G | rs869025615 | null | curated_name | risk | Predisposition | Supports | 3,744 | E55fs (c.163delG) | VHL | 10,178 | 3,612 | C | 3 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,010 | G | T | null | CA351748495 | grch38_hgvs | risk | Predisposition | Supports | 1,736 | E55* (c.163G>T) | VHL | 4,898 | 1,612 | C | 3 | Rare Germline | 23298237 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,694 | accepted |
3 | 10,142,026 | GG | G | rs730882037 | null | curated_name | risk | Predisposition | Supports | 3,184 | V62Cfs*5 (c.180del) | VHL | 4,916 | 3,053 | C | 4 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,030 | C | CC | null | null | curated_name | risk | Predisposition | Supports | 2,014 | P61fs (c.183insC) | VHL | 5,420 | 1,890 | C | 3 | Rare Germline | 11409863 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,043 | GTGAACTCGCGCGA | G | null | null | curated_name | risk | Predisposition | Supports | 2,447 | V66Gfs*89 (c.197_209del) | VHL | 6,546 | 2,320 | C | 2 | Rare Germline | 25867206 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,050 | C | G | null | CA351748895 | grch38_hgvs | risk | Predisposition | Supports | 2,012 | S68W (c.203C>G) | VHL | 5,414 | 1,888 | C | 3 | Rare Germline | 12000816 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,734 | accepted |
3 | 10,142,051 | G | GG | rs2470158072 | null | curated_name | risk | Predisposition | Supports | 1,948 | R69fs (c.204insG) | VHL | 5,245 | 1,824 | C | 2 | Rare Germline | 21972040 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,076 | TG | T | null | null | curated_name | risk | Predisposition | Supports | 3,245 | C77fs (c.230del) | VHL | 8,997 | 3,114 | C | 3 | Rare Germline | 8634692 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,105 | C | CC | rs864622545 | null | curated_name | risk | Predisposition | Supports | 3,741 | V87fs (c.255_256insC) | VHL | 10,171 | 3,609 | C | 3 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,119 | TC | AA | null | null | curated_name | risk | Predisposition | Supports | 1,893 | F91* (c.272_273delinsAA) | VHL | 5,153 | 1,769 | C | 4 | Rare Germline | 17024664 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,159 | C | G | null | CA432420538 | grch38_hgvs | risk | Predisposition | Supports | 2,293 | G104= (c.312C>G) | VHL | 6,110 | 2,169 | C | 1 | Rare Germline | 9829912 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,843 | accepted |
3 | 10,142,171 | C | CCGC | rs869191373 | null | curated_name | risk | Predisposition | Supports | 2,930 | 106insR (c.316insGCC) | VHL | 7,892 | 2,799 | C | 3 | Rare Germline | 11850829 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,185 | GA | G | null | null | curated_name | risk | Predisposition | Supports | 2,455 | G114Vfs*45 (c.339delA) | VHL | 6,603 | 2,328 | C | 3 | Rare Germline | 25867206 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,142,192 | G | C | null | CA020288 | grch38_hgvs | risk | Predisposition | Supports | 2,104 | Splice Region (c.340+5G>C) | VHL | 5,246 | 1,980 | C | 2 | Rare Germline | 21972040 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,876 | accepted |
3 | 10,146,547 | A | AA | null | null | curated_name | risk | Predisposition | Supports | 2,136 | H125fs (c.374insA) | VHL | 5,733 | 2,012 | C | 3 | Rare Germline | 17024664 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,558 | C | CAGA | null | null | curated_name | risk | Predisposition | Supports | 1,768 | L129Q (c.386insAGA) | VHL | 4,934 | 1,644 | C | 3 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,559 | T | C | null | CA351753904 | grch38_hgvs | risk | Predisposition | Supports | 2,508 | L129P (c.386T>C) | VHL | 5,479 | 2,381 | C | 2 | Rare Germline | 20846682 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,243 | accepted |
3 | 10,146,565 | A | G | null | CA351753941 | grch38_hgvs | risk | Predisposition | Supports | 2,001 | N131S (c.392A>G) | VHL | 5,380 | 1,877 | C | 3 | Rare Germline | 10761708 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,249 | accepted |
3 | 10,146,591 | CTC | C | rs869025649 | null | curated_name | risk | Predisposition | Supports | 1,960 | L140fs (c.417_418delTC) | VHL | 5,279 | 1,836 | C | 3 | Rare Germline | 9829912 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,603 | GG | G | rs869025651 | null | curated_name | risk | Predisposition | Supports | 1,844 | D143fs (c.430delG) | VHL | 5,048 | 1,720 | C | 3 | Rare Germline | 9829911 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,604 | G | GG | null | null | curated_name | risk | Predisposition | Supports | 1,949 | G144fs (c.432insG) | VHL | 5,247 | 1,825 | C | 2 | Rare Germline | 21972040 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,616 | TTGCCAATATCAC | A | null | null | curated_name | risk | Predisposition | Supports | 3,143 | F148* (c.443_455delinsA) | VHL | 8,608 | 3,012 | C | 2 | Rare Germline | 20151405 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,621 | AA | A | rs794727253 | null | curated_name | risk | Predisposition | Supports | 1,770 | N150fs (c.449del) | VHL | 4,936 | 1,646 | C | 3 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,621 | AA | A | rs794727253 | null | curated_name | risk | Predisposition | Supports | 3,743 | N150fs (c.448delA) | VHL | 10,176 | 3,611 | C | 3 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,621 | AATATCACACTGCCA | A | null | null | curated_name | risk | Predisposition | Supports | 2,023 | N150fs (c.449_462del) | VHL | 5,442 | 1,899 | C | 3 | Rare Germline | 11409863 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,627 | A | AA | null | null | curated_name | risk | Predisposition | Supports | 2,091 | T152fs (c.455insA) | VHL | 5,734 | 1,967 | C | 3 | Rare Germline | 17024664 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,636 | G | C | rs869025659 | null | curated_name | risk | Predisposition | Supports | 2,046 | V155L (c.463G>C) | VHL | 5,516 | 1,922 | C | 4 | Rare Germline | 12202531 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,146,638 | T | C | rs5030814 | CA16621936 | both | risk | Predisposition | Supports | 2,075 | Splice Site (c.463+2T>C) | VHL | 5,356 | 1,951 | C | 2 | Rare Germline | 8707293 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,322 | accepted |
3 | 10,146,638 | T | C | rs5030814 | CA16621936 | both | risk | Predisposition | Supports | 2,075 | Splice Site (c.463+2T>C) | VHL | 6,610 | 1,951 | C | 3 | Rare Germline | 25867206 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,322 | accepted |
3 | 10,149,786 | G | C | rs5030817 | CA357081 | both | risk | Predisposition | Supports | 2,077 | Splice Site (c.464-1G>C) | VHL | 5,745 | 1,953 | C | 2 | Rare Germline | 17024664 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,470 | accepted |
3 | 10,149,786 | G | T | rs5030817 | CA357144 | both | risk | Predisposition | Supports | 1,990 | Splice Site (c.464-1G>T) | VHL | 5,343 | 1,866 | C | 2 | Rare Germline | 8641976 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,470 | accepted |
3 | 10,149,804 | C | A | null | CA432423146 | grch38_hgvs | risk | Predisposition | Supports | 2,148 | R161= (c.481C>A) | VHL | 5,768 | 2,024 | C | 2 | Rare Germline | 22357542 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,488 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 4,913 | 1,615 | C | 4 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 5,062 | 1,615 | C | 4 | Rare Germline | 9829911 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 5,264 | 1,615 | C | 3 | Rare Germline | 9829912 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 5,354 | 1,615 | C | 3 | Rare Germline | 8707293 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 5,381 | 1,615 | C | 3 | Rare Germline | 10761708 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 5,402 | 1,615 | C | 3 | Rare Germline | 12000816 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 5,469 | 1,615 | C | 2 | Rare Germline | 20660572 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 5,485 | 1,615 | C | 2 | Rare Germline | 20846682 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 5,487 | 1,615 | C | 2 | Rare Germline | 12114495 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 6,222 | 1,615 | C | 3 | Rare Germline | 29396065 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 8,992 | 1,615 | C | 3 | Rare Germline | 8634692 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,823 | G | A | rs5030821 | CA020454 | both | risk | Predisposition | Supports | 1,739 | R167Q (c.500G>A) | VHL | 9,538 | 1,615 | C | 3 | Rare Germline | 12202531 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,507 | accepted |
3 | 10,149,824 | G | GTTGTCCGT | rs398123483 | null | curated_name | risk | Predisposition | Supports | 1,779 | R167fs (c.502insTTGTCCGT) | VHL | 4,946 | 1,655 | C | 3 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
3 | 10,149,856 | T | C | rs5030822 | null | curated_name | risk | Predisposition | Supports | 2,459 | L178P (c.532C>T) | VHL | 6,622 | 2,332 | C | 3 | Rare Germline | 25867206 | Von Hippel-Lindau Disease | 14175 | null | null | accepted |
9 | 21,971,209 | C | G | rs730881677 | null | curated_name | risk | Predisposition | Supports | 2,884 | c.151-1G>C | CDKN2A | 7,765 | 2,753 | C | 3 | Rare Germline | 11433531 | Melanoma | 1909 | null | null | accepted |
10 | 43,121,968 | T | C | rs74799832 | CA009082 | both | risk | Predisposition | Supports | 113 | M918T | RET | 12,711 | 113 | C | 2 | Rare Germline | 29515777 | Medullary Thyroid Carcinoma | 3973 | 10 | 43,617,416 | accepted |
11 | 119,278,181 | T | C | rs267606706 | null | curated_name | risk | Predisposition | Supports | 2,638 | Y371H | CBL | 7,147 | 2,507 | C | 3 | Rare Germline | 20543203 | Juvenile Myelomonocytic Leukemia | 0050458 | null | null | accepted |
14 | 95,094,125 | A | T | rs1890098663 | null | curated_name | risk | Predisposition | Supports | 2,196 | D1709E | DICER1 | 5,888 | 2,072 | C | 2 | Rare Germline | 22187960 | Sertoli-Leydig Cell Tumor | 2997 | null | null | accepted |
14 | 95,094,126 | T | C | rs1555366979 | null | curated_name | risk | Predisposition | Supports | 2,195 | D1709G | DICER1 | 5,887 | 2,071 | C | 3 | Rare Germline | 22187960 | Sertoli-Leydig Cell Tumor | 2997 | null | null | accepted |
14 | 95,094,127 | C | T | rs1595331264 | null | curated_name | risk | Predisposition | Supports | 2,051 | D1709N | DICER1 | 5,886 | 1,927 | B | 3 | Rare Germline | 22187960 | Sertoli-Leydig Cell Tumor | 2997 | null | null | accepted |
18 | 51,065,548 | C | T | rs80338963 | null | curated_name | risk | Predisposition | Supports | 2,851 | R361C | SMAD4 | 6,446 | 2,720 | C | 1 | Rare Germline | 9811934 | Juvenile Polyposis Syndrome | 0050787 | null | null | accepted |
21 | 34,880,553 | GT | G | rs587776810 | null | curated_name | risk | Predisposition | Supports | 804 | R135FSX177 | RUNX1 | 1,873 | 782 | C | 4 | Rare Germline | 11830488 | Acute Myeloid Leukemia | 9119 | null | null | accepted |
22 | 28,694,073 | G | A | rs540635787 | null | curated_name | risk | Predisposition | Supports | 2,959 | R474C c.1420C>T | CHEK2 | 7,962 | 2,828 | C | 3 | Rare Germline | 27900359 | Cancer | 162 | null | null | accepted |
22 | 28,725,242 | C | T | rs121908698 | null | curated_name | null | Predisposition | Does Not Support | 788 | IVS2+1G>A | CHEK2 | 1,854 | 769 | B | 2 | Rare Germline | 26629066 | Prostate Cancer | 10283 | null | null | accepted |
22 | 29,674,891 | C | T | rs74315504 | null | curated_name | risk | Predisposition | Supports | 3,002 | c.1396C>T | NF2 | 8,067 | 2,871 | C | 2 | Rare Germline | 21294614 | Adult Spinal Cord Ependymoma | 7788 | null | null | accepted |
null | null | null | null | rs11540652 | CA000387 | rsid | risk | Predisposition | Supports | 117 | R248Q | TP53 | 7,161 | 117 | D | 4 | Rare Germline | 23538418 | Lymphoma | 0060058 | 17 | 7,577,538 | accepted |
null | null | null | null | rs1801133 | CA170990 | rsid | protective | Protectiveness | Supports | 258 | A222V | MTHFR | 1,756 | 254 | B | 4 | Common Germline | 27819322 | Prostate Adenocarcinoma | 2526 | 1 | 11,856,378 | accepted |
null | null | null | null | rs2736100 | CA11915794 | rsid | risk | Predisposition | Supports | 421 | RS2736100 | TERT | 980 | 417 | B | 2 | Common Germline | 26765760 | Brain Glioma | 0060108 | 5 | 1,286,516 | accepted |
null | null | null | null | rs398122670 | CA001889 | rsid | risk | Predisposition | Supports | 477 | P968FS | BRCA1 | 1,123 | 473 | C | 4 | Rare Germline | 24137399 | Breast Cancer | 1612 | 17 | 41,244,645 | accepted |
null | null | null | null | rs398122670 | CA001889 | rsid | risk | Predisposition | Supports | 477 | P968FS | BRCA1 | 1,124 | 473 | C | 4 | Rare Germline | 24137399 | Ovarian Cancer | 2394 | 17 | 41,244,645 | accepted |
null | null | null | null | rs80359198 | CA10586089 | rsid | risk | Predisposition | Supports | 661 | D3095E | BRCA2 | 1,679 | 657 | C | 3 | Rare Germline | 18951446 | Breast Cancer | 1612 | 13 | 32,968,854 | accepted |
null | null | null | null | rs3184504 | CA6789733 | rsid | risk | Predisposition | Supports | 699 | RS3184504 | SH2B3 | 1,744 | 680 | B | 2 | Common Germline | 26621817 | Colorectal Cancer | 9256 | 12 | 111,884,608 | accepted |
null | null | null | null | rs681673 | CA10728634 | rsid | risk | Predisposition | Supports | 705 | rs681673 | GADD45A | 1,751 | 686 | B | 3 | Common Germline | 26422378 | Ovarian Cancer | 2394 | 1 | 68,152,388 | accepted |
null | null | null | null | null | CA645524645 | caid | risk | Predisposition | Supports | 771 | A56FS (c.164_165insG) | VHL | 1,835 | 752 | C | 3 | Rare Germline | 17024664 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,695 | accepted |
null | null | null | null | rs138213197 | CA288225 | rsid | risk | Predisposition | Supports | 772 | G84E | HOXB13 | 1,760 | 753 | B | 4 | Common Germline | 26108461 | Prostate Cancer | 10283 | 17 | 46,805,705 | accepted |
null | null | null | null | rs138213197 | CA288225 | rsid | risk | Predisposition | Supports | 772 | G84E | HOXB13 | 1,836 | 753 | B | 4 | Rare Germline | 27626483 | Prostate Cancer | 10283 | 17 | 46,805,705 | accepted |
null | null | null | null | rs555607708 | CA288251 | rsid | risk | Predisposition | Supports | 785 | 1100DELC | CHEK2 | 1,850 | 766 | B | 3 | Rare Germline | 26629066 | Prostate Cancer | 10283 | 22 | 29,091,857 | accepted |
null | null | null | null | rs17879961 | CA117630 | rsid | risk | Predisposition | Supports | 787 | I157T | CHEK2 | 1,852 | 768 | B | 3 | Rare Germline | 26629066 | Prostate Cancer | 10283 | 22 | 29,121,087 | accepted |
null | null | null | null | null | CA658795187 | caid | risk | Predisposition | Supports | 793 | A56fs (c.164_165insA) | VHL | 1,857 | 771 | C | 2 | Rare Germline | 7987306 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,695 | accepted |
null | null | null | null | rs1553619391 | CA432536364 | rsid | risk | Predisposition | Supports | 794 | E55= (c.165G>A) | VHL | 1,858 | 772 | C | 2 | Rare Germline | 9829912 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,696 | accepted |
null | null | null | null | rs121912498 | CA248613 | rsid | risk | Predisposition | Supports | 802 | K83E | RUNX1 | 1,871 | 780 | C | 4 | Rare Germline | 11830488 | Acute Myeloid Leukemia | 9119 | 21 | 36,259,163 | accepted |
null | null | null | null | rs121912499 | CA248619 | rsid | risk | Predisposition | Supports | 803 | Y260* | RUNX1 | 1,872 | 781 | C | 3 | Rare Germline | 11830488 | Acute Myeloid Leukemia | 9119 | 21 | 36,171,704 | accepted |
null | null | null | null | rs74315451 | CA248623 | rsid | risk | Predisposition | Supports | 807 | A107P | RUNX1 | 1,876 | 785 | C | 5 | Rare Germline | 12060124 | Acute Myeloid Leukemia | 9119 | 21 | 36,252,962 | accepted |
null | null | null | null | null | CA358665 | caid | risk | Predisposition | Supports | 814 | R164W | DDX41 | 1,887 | 792 | C | 3 | Rare Germline | 26712909 | Hematologic Cancer | 2531 | 5 | 176,942,767 | accepted |
null | null | null | null | rs587780077 | CA020355 | rsid | risk | Predisposition | Supports | 820 | A149S (c.445G>T) | VHL | 1,896 | 798 | C | 4 | Rare Germline | 9435426 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,302 | accepted |
null | null | null | null | rs121913293 | CA000498 | rsid | risk | Predisposition | Supports | 838 | R173C | PTEN | 1,935 | 812 | C | 3 | Rare Germline | 22628360 | Obsolete PTEN Hamartoma Tumor Syndrome | 0080191 | 10 | 89,711,899 | accepted |
null | null | null | null | null | CA658795188 | caid | risk | Predisposition | Supports | 851 | P59fs (c.173_174insC) | VHL | 1,950 | 825 | C | 3 | Rare Germline | 19270817 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,704 | accepted |
null | null | null | null | null | CA007824 | caid | risk | Predisposition | Supports | 1,260 | C609Y | RET | 2,913 | 1,234 | B | 4 | Rare Germline | 19472011 | Medullary Thyroid Carcinoma | 3973 | 10 | 43,609,070 | accepted |
null | null | null | null | null | CA351748085 | caid | risk | Predisposition | Supports | 1,733 | E46* (c.136G>T) | VHL | 4,895 | 1,609 | C | 4 | Rare Germline | 12202531 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,667 | accepted |
null | null | null | null | rs373068386 | CA020056 | rsid | risk | Predisposition | Supports | 1,734 | E52K (c.154G>A) | VHL | 4,896 | 1,610 | C | 4 | Rare Germline | 12202531 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,685 | accepted |
null | null | null | null | rs373068386 | CA020056 | rsid | risk | Predisposition | Supports | 1,734 | E52K (c.154G>A) | VHL | 5,272 | 1,610 | C | 2 | Rare Germline | 9829912 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,685 | accepted |
null | null | null | null | rs121913346 | CA020399 | rsid | risk | Predisposition | Supports | 1,738 | L158P (c.473T>C) | VHL | 4,938 | 1,614 | C | 4 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,480 | accepted |
null | null | null | null | rs121913346 | CA020399 | rsid | risk | Predisposition | Supports | 1,738 | L158P (c.473T>C) | VHL | 5,103 | 1,614 | C | 3 | Rare Germline | 17661816 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,480 | accepted |
null | null | null | null | rs121913346 | CA020399 | rsid | risk | Predisposition | Supports | 1,738 | L158P (c.473T>C) | VHL | 5,281 | 1,614 | C | 3 | Rare Germline | 9829912 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,480 | accepted |
null | null | null | null | rs121913346 | CA020399 | rsid | risk | Predisposition | Supports | 1,738 | L158P (c.473T>C) | VHL | 6,613 | 1,614 | C | 3 | Rare Germline | 25867206 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,480 | accepted |
null | null | null | null | rs121913346 | CA020399 | rsid | risk | Predisposition | Supports | 1,738 | L158P (c.473T>C) | VHL | 9,537 | 1,614 | C | 3 | Rare Germline | 12202531 | Von Hippel-Lindau Disease | 14175 | 3 | 10,191,480 | accepted |
null | null | null | null | rs5030809 | CA020246 | rsid | risk | Predisposition | Supports | 1,741 | Y98H (c.292T>C) | VHL | 4,906 | 1,617 | C | 3 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,823 | accepted |
null | null | null | null | rs5030809 | CA020246 | rsid | risk | Predisposition | Supports | 1,741 | Y98H (c.292T>C) | VHL | 5,418 | 1,617 | C | 3 | Rare Germline | 12000816 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,823 | accepted |
null | null | null | null | rs5030809 | CA020246 | rsid | risk | Predisposition | Supports | 1,741 | Y98H (c.292T>C) | VHL | 5,451 | 1,617 | C | 2 | Rare Germline | 20660572 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,823 | accepted |
null | null | null | null | rs5030809 | CA020246 | rsid | risk | Predisposition | Supports | 1,741 | Y98H (c.292T>C) | VHL | 5,474 | 1,617 | C | 2 | Rare Germline | 20846682 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,823 | accepted |
null | null | null | null | rs5030809 | CA020246 | rsid | risk | Predisposition | Supports | 1,741 | Y98H (c.292T>C) | VHL | 5,807 | 1,617 | C | 2 | Rare Germline | 25883647 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,823 | accepted |
null | null | null | null | rs5030809 | CA020246 | rsid | risk | Predisposition | Supports | 1,741 | Y98H (c.292T>C) | VHL | 7,645 | 1,617 | B | 4 | Rare Germline | 7759077 | Von Hippel-Lindau Disease | 14175 | 3 | 10,183,823 | accepted |
null | null | null | null | rs864622646 | CA351753631 | rsid | risk | Predisposition | Supports | 1,742 | H115Q (c.345C>A) | VHL | 4,907 | 1,618 | C | 2 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,202 | accepted |
null | null | null | null | rs1559428077 | CA351753726 | rsid | risk | Predisposition | Supports | 1,743 | F119L (c.357C>G) | VHL | 4,908 | 1,619 | C | 2 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,214 | accepted |
null | null | null | null | rs1559428077 | CA351753726 | rsid | risk | Predisposition | Supports | 1,743 | F119L (c.357C>G) | VHL | 5,411 | 1,619 | C | 3 | Rare Germline | 12000816 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,214 | accepted |
null | null | null | null | rs1559428077 | CA351753726 | rsid | risk | Predisposition | Supports | 1,743 | F119L (c.357C>G) | VHL | 5,436 | 1,619 | C | 2 | Rare Germline | 11409863 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,214 | accepted |
null | null | null | null | rs1559428077 | CA351753726 | rsid | risk | Predisposition | Supports | 1,743 | F119L (c.357C>G) | VHL | 5,454 | 1,619 | C | 2 | Rare Germline | 20660572 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,214 | accepted |
null | null | null | null | rs587780077 | CA357066 | rsid | risk | Predisposition | Supports | 1,744 | A149T (c.445G>A) | VHL | 4,909 | 1,620 | C | 2 | Rare Germline | 7728151 | Von Hippel-Lindau Disease | 14175 | 3 | 10,188,302 | accepted |
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