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 |
|---|---|---|---|---|---|---|---|
null | 20:32435442:GC:G | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Inborn genetic diseases | |
null | 20:32435442:GC:G | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs1555912285 | rs1555912285 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs1555912285 | rs1555912285 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs387907077 | rs387907077 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs387907077 | rs387907077 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs2515571377 | rs2515571377 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515571377 | rs2515571377 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1555912296 | rs1555912296 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs1555912296 | rs1555912296 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs2515571395 | rs2515571395 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515571395 | rs2515571395 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1569333361 | rs1569333361 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs1569333361 | rs1569333361 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs1064793988 | rs1064793988 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1064793988 | rs1064793988 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs397515401 | rs397515401 | ClinVar: pathogenic (2★) — not provided|Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided|Bohring-Opitz syndrome | |
rs397515401 | rs397515401 | ClinVar: pathogenic (2★) — not provided|Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided|Bohring-Opitz syndrome | |
rs886039722 | rs886039722 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs886039722 | rs886039722 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1366953593 | rs1366953593 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1366953593 | rs1366953593 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1064796772 | rs1064796772 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs1064796772 | rs1064796772 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
null | 20:32435693:CT:C | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32435693:CT:C | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515574798 | rs2515574798 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515574798 | rs2515574798 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs786205552 | rs786205552 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs786205552 | rs786205552 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1555912392 | rs1555912392 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1555912392 | rs1555912392 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
null | 20:32435749:A:AGCAGTGAGGCTGACACTAGAGAAGCT | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32435749:A:AGCAGTGAGGCTGACACTAGAGAAGCT | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1555912419 | rs1555912419 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs1555912419 | rs1555912419 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs886039670 | rs886039670 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs886039670 | rs886039670 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2145378635 | rs2145378635 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2145378635 | rs2145378635 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs764651405 | rs764651405 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
rs764651405 | rs764651405 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome|not provided | |
null | 20:32436127:AC:A | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32436127:AC:A | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.7eE_jQCwigMw0BRv4VRPHPsImyg9uBD4 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.7eE_jQCwigMw0BRv4VRPHPsImyg9uBD4 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs757040754 | rs757040754 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs757040754 | rs757040754 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.XxItS11_r1OGuSOtBK_MdLS2esgeJ9nr | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.XxItS11_r1OGuSOtBK_MdLS2esgeJ9nr | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515581999 | rs2515581999 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515581999 | rs2515581999 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515582457 | rs2515582457 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515582457 | rs2515582457 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515582691 | rs2515582691 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs2515582691 | rs2515582691 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ASXL1 | Inborn genetic diseases | |
rs1555912648 | rs1555912648 | ClinVar: pathogenic (2★) — not provided|ASXL1-related disorder | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided|ASXL1-related disorder | |
rs1555912648 | rs1555912648 | ClinVar: pathogenic (2★) — not provided|ASXL1-related disorder | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided|ASXL1-related disorder | |
rs1569337176 | rs1569337176 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1569337176 | rs1569337176 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515583794 | rs2515583794 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515583794 | rs2515583794 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1569337452 | rs1569337452 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1569337452 | rs1569337452 | ClinVar: pathogenic (2★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515584691 | rs2515584691 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome|Myelodysplastic syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome|Myelodysplastic syndrome | |
rs2515584691 | rs2515584691 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome|Myelodysplastic syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome|Myelodysplastic syndrome | |
null | ga4gh:VA.F_9OxJjvmbo4tVWazQddEmSNwNiriNO- | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | ga4gh:VA.F_9OxJjvmbo4tVWazQddEmSNwNiriNO- | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1600592990 | rs1600592990 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1600592990 | rs1600592990 | ClinVar: likely_pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1057518458 | rs1057518458 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1057518458 | rs1057518458 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515587165 | rs2515587165 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515587165 | rs2515587165 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
null | 20:32436706:GT:G | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
null | 20:32436706:GT:G | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515588166 | rs2515588166 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515588166 | rs2515588166 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs763386297 | rs763386297 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs763386297 | rs763386297 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1569339085 | rs1569339085 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1569339085 | rs1569339085 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2145392365 | rs2145392365 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2145392365 | rs2145392365 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515589583 | rs2515589583 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515589583 | rs2515589583 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1555912897 | rs1555912897 | ClinVar: pathogenic (2★) — Inborn genetic diseases|Myelodysplastic syndrome|Bohring-Opitz syndrome|not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Inborn genetic diseases|Myelodysplastic syndrome|Bohring-Opitz syndrome|not provided | |
rs1555912897 | rs1555912897 | ClinVar: pathogenic (2★) — Inborn genetic diseases|Myelodysplastic syndrome|Bohring-Opitz syndrome|not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | Inborn genetic diseases|Myelodysplastic syndrome|Bohring-Opitz syndrome|not provided | |
rs1600594932 | rs1600594932 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1600594932 | rs1600594932 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs1555912930 | rs1555912930 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1555912930 | rs1555912930 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs2515591260 | rs2515591260 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs2515591260 | rs2515591260 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided | |
rs754129466 | rs754129466 | ClinVar: pathogenic (2★) — Rubinstein Taybi like syndrome|Inborn genetic diseases|not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Rubinstein Taybi like syndrome|Inborn genetic diseases|not provided | |
rs754129466 | rs754129466 | ClinVar: pathogenic (2★) — Rubinstein Taybi like syndrome|Inborn genetic diseases|not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | Rubinstein Taybi like syndrome|Inborn genetic diseases|not provided | |
rs2515591610 | rs2515591610 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: heterozygous (one copy) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs2515591610 | rs2515591610 | ClinVar: pathogenic (1★) — Bohring-Opitz syndrome | genotype: homozygous (two copies) | null | cancer | ASXL1 | Bohring-Opitz syndrome | |
rs1555912974 | rs1555912974 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ASXL1 | not provided | |
rs1555912974 | rs1555912974 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ASXL1 | not provided |
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