rsid large_stringlengths 5 12 ⌀ | variant_key large_stringlengths 5 111 ⌀ | conclusion large_stringlengths 10 1.08k ⌀ | negatives large_stringclasses 0
values | module large_stringclasses 10
values | gene large_stringlengths 0 12 ⌀ | phenotype large_stringlengths 0 1.02k ⌀ | category large_stringclasses 13
values |
|---|---|---|---|---|---|---|---|
rs2138178306 | rs2138178306 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138178306 | rs2138178306 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1592121752 | rs1592121752 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1592121752 | rs1592121752 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs772995852 | rs772995852 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs772995852 | rs772995852 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138180455 | rs2138180455 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138180455 | rs2138180455 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45852727:GAGTT:G | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45852727:GAGTT:G | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1943579551 | rs1943579551 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1943579551 | rs1943579551 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138181920 | rs2138181920 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138181920 | rs2138181920 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138192598 | rs2138192598 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs2138192598 | rs2138192598 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs79280775 | rs79280775 | ClinVar: likely_pathogenic (1★) — Neurodevelopmental disorder | genotype: heterozygous (one copy) | null | cancer | ARID2 | Neurodevelopmental disorder | |
rs79280775 | rs79280775 | ClinVar: likely_pathogenic (1★) — Neurodevelopmental disorder | genotype: homozygous (two copies) | null | cancer | ARID2 | Neurodevelopmental disorder | |
rs2138231889 | rs2138231889 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138231889 | rs2138231889 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | ga4gh:VA.zT9wPwlBPpo5iEc7PwvCvn_OtyZB5aJ_ | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
null | ga4gh:VA.zT9wPwlBPpo5iEc7PwvCvn_OtyZB5aJ_ | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs1944306056 | rs1944306056 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy|Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | ARID2-related BAFopathy|Coffin-Siris syndrome 6 | |
rs1944306056 | rs1944306056 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy|Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | ARID2-related BAFopathy|Coffin-Siris syndrome 6 | |
rs1368075571 | rs1368075571 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1368075571 | rs1368075571 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs2138232693 | rs2138232693 | ClinVar: likely_pathogenic (1★) — Chronic diarrhea | genotype: heterozygous (one copy) | null | cancer | ARID2 | Chronic diarrhea | |
rs2138232693 | rs2138232693 | ClinVar: likely_pathogenic (1★) — Chronic diarrhea | genotype: homozygous (two copies) | null | cancer | ARID2 | Chronic diarrhea | |
rs2138233303 | rs2138233303 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs2138233303 | rs2138233303 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
null | 12:45892090:CTA:C | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45892090:CTA:C | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | ga4gh:VA.4GG3po3gSiVYK_lzj0QZ1Eaxr3EYW7r9 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | ga4gh:VA.4GG3po3gSiVYK_lzj0QZ1Eaxr3EYW7r9 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1565642121 | rs1565642121 | ClinVar: pathogenic (2★) — Coffin-Siris syndrome 6|not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6|not provided | |
rs1565642121 | rs1565642121 | ClinVar: pathogenic (2★) — Coffin-Siris syndrome 6|not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6|not provided | |
rs774801990 | rs774801990 | ClinVar: pathogenic (2★) — Inborn genetic diseases|not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | Inborn genetic diseases|not provided | |
rs774801990 | rs774801990 | ClinVar: pathogenic (2★) — Inborn genetic diseases|not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | Inborn genetic diseases|not provided | |
rs1592145571 | rs1592145571 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1592145571 | rs1592145571 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555162230 | rs1555162230 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1555162230 | rs1555162230 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs2048205050 | rs2048205050 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2048205050 | rs2048205050 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1555900832 | rs1555900832 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1555900832 | rs1555900832 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2122833556 | rs2122833556 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2122833556 | rs2122833556 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
null | 20:32369081:G:GT | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32369081:G:GT | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1555901138 | rs1555901138 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1555901138 | rs1555901138 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1179121574 | rs1179121574 | ClinVar: pathogenic (2★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1179121574 | rs1179121574 | ClinVar: pathogenic (2★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
null | ga4gh:VA.Yt08V87_YuXc2I1c1ABOaDfDXXlNNxA- | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.Yt08V87_YuXc2I1c1ABOaDfDXXlNNxA- | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2123221798 | rs2123221798 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2123221798 | rs2123221798 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2011567269 | rs2011567269 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2011567269 | rs2011567269 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32433286:TG:T | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32433286:TG:T | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs780526428 | rs780526428 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs780526428 | rs780526428 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs199846284 | rs199846284 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs199846284 | rs199846284 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1427299519 | rs1427299519 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs1427299519 | rs1427299519 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ASXL1 | Inborn genetic diseases | |
null | ga4gh:VA.ecawxFEQHyt2qfmtjl2K5KjVkm8J6sv7 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
null | ga4gh:VA.ecawxFEQHyt2qfmtjl2K5KjVkm8J6sv7 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs886043994 | rs886043994 | ClinVar: pathogenic (2★) — not provided|Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided|Bohring-Opitz syndrome | |
rs886043994 | rs886043994 | ClinVar: pathogenic (2★) — not provided|Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided|Bohring-Opitz syndrome | |
null | ga4gh:VA.fQggGl5Ylt6m6yJp2gbUj7UoxF6s__9K | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
null | ga4gh:VA.fQggGl5Ylt6m6yJp2gbUj7UoxF6s__9K | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs373145711 | rs373145711 | ClinVar: pathogenic (2★) — dystrophia|Developmental delay|Hypertrichosis|Feeding difficulties|Delayed gross motor development|Small for gestational age|Glabellar hemangioma|Delayed speech and language development|Prominent metopic ridge|Severe intellectual disability|Global developmental delay|Abnormal corpus callosum ... | null | cancer | ASXL1 | dystrophia|Developmental delay|Hypertrichosis|Feeding difficulties|Delayed gross motor development|Small for gestational age|Glabellar hemangioma|Delayed speech and language development|Prominent metopic ridge|Severe intellectual disability|Global developmental delay|Abnormal corpus callosum morphology|not provided|Mye... | |
rs373145711 | rs373145711 | ClinVar: pathogenic (2★) — dystrophia|Developmental delay|Hypertrichosis|Feeding difficulties|Delayed gross motor development|Small for gestational age|Glabellar hemangioma|Delayed speech and language development|Prominent metopic ridge|Severe intellectual disability|Global developmental delay|Abnormal corpus callosum ... | null | cancer | ASXL1 | dystrophia|Developmental delay|Hypertrichosis|Feeding difficulties|Delayed gross motor development|Small for gestational age|Glabellar hemangioma|Delayed speech and language development|Prominent metopic ridge|Severe intellectual disability|Global developmental delay|Abnormal corpus callosum morphology|not provided|Mye... | |
rs886041975 | rs886041975 | ClinVar: pathogenic (2★) — not provided|Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided|Bohring-Opitz syndrome | |
rs886041975 | rs886041975 | ClinVar: pathogenic (2★) — not provided|Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided|Bohring-Opitz syndrome | |
rs1569324457 | rs1569324457 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1569324457 | rs1569324457 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2011602498 | rs2011602498 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2011602498 | rs2011602498 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515535483 | rs2515535483 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515535483 | rs2515535483 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2011605261 | rs2011605261 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2011605261 | rs2011605261 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1555911496 | rs1555911496 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1555911496 | rs1555911496 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1600583334 | rs1600583334 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1600583334 | rs1600583334 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1555911508 | rs1555911508 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1555911508 | rs1555911508 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1555911515 | rs1555911515 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs1555911515 | rs1555911515 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs777537805 | rs777537805 | ClinVar: pathogenic (2★) — Inborn genetic diseases|not provided|Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Inborn genetic diseases|not provided|Bohring-Opitz syndrome | |
rs777537805 | rs777537805 | ClinVar: pathogenic (2★) — Inborn genetic diseases|not provided|Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Inborn genetic diseases|not provided|Bohring-Opitz syndrome | |
rs2123267182 | rs2123267182 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2123267182 | rs2123267182 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2123267274 | rs2123267274 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2123267274 | rs2123267274 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.