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 | 1:26779486:CAG:C | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID1A | Inborn genetic diseases | |
null | 1:26779486:CAG:C | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID1A | Inborn genetic diseases | |
rs1570621899 | rs1570621899 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1570621899 | rs1570621899 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2522045814 | rs2522045814 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2522045814 | rs2522045814 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2081174839 | rs2081174839 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2081174839 | rs2081174839 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs879255270 | ga4gh:VA.B0pPVJZL589kX74f7db0_ML5ixn37OfS | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs879255270 | ga4gh:VA.B0pPVJZL589kX74f7db0_ML5ixn37OfS | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs879255270 | ga4gh:VA.nfR_oUAUco7jhgcbsayAJhIEizy6kjFq | ClinVar: pathogenic (1★) — not provided|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided|Intellectual disability, autosomal dominant 14 | |
rs879255270 | ga4gh:VA.nfR_oUAUco7jhgcbsayAJhIEizy6kjFq | ClinVar: pathogenic (1★) — not provided|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided|Intellectual disability, autosomal dominant 14 | |
rs2081174999 | rs2081174999 | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID1A | Inborn genetic diseases | |
rs2081174999 | rs2081174999 | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID1A | Inborn genetic diseases | |
rs1557620758 | rs1557620758 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|ARID1A-related BAFopathy | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|ARID1A-related BAFopathy | |
rs1557620758 | rs1557620758 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|ARID1A-related BAFopathy | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|ARID1A-related BAFopathy | |
rs1570622663 | rs1570622663 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1570622663 | rs1570622663 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124146737 | rs2124146737 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124146737 | rs2124146737 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2522050035 | rs2522050035 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs2522050035 | rs2522050035 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs1553153770 | rs1553153770 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs1553153770 | rs1553153770 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs1553153771 | rs1553153771 | ClinVar: likely_pathogenic (1★) — not provided|Coffin-Siris syndrome | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided|Coffin-Siris syndrome | |
rs1553153771 | rs1553153771 | ClinVar: likely_pathogenic (1★) — not provided|Coffin-Siris syndrome | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided|Coffin-Siris syndrome | |
rs1026678745 | rs1026678745 | ClinVar: likely_pathogenic (1★) — ARID1A-related disorder | genotype: heterozygous (one copy) | null | cancer | ARID1A | ARID1A-related disorder | |
rs1026678745 | rs1026678745 | ClinVar: likely_pathogenic (1★) — ARID1A-related disorder | genotype: homozygous (two copies) | null | cancer | ARID1A | ARID1A-related disorder | |
rs1553153783 | rs1553153783 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1553153783 | rs1553153783 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124151159 | rs2124151159 | ClinVar: pathogenic (1★) — Septo-optic dysplasia sequence | genotype: heterozygous (one copy) | null | cancer | ARID1A | Septo-optic dysplasia sequence | |
rs2124151159 | rs2124151159 | ClinVar: pathogenic (1★) — Septo-optic dysplasia sequence | genotype: homozygous (two copies) | null | cancer | ARID1A | Septo-optic dysplasia sequence | |
rs1064795682 | rs1064795682 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs1064795682 | rs1064795682 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2124151986 | rs2124151986 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs2124151986 | rs2124151986 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs1570623368 | rs1570623368 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs1570623368 | rs1570623368 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2137959601 | rs2137959601 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2137959601 | rs2137959601 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | ga4gh:VA.DJdqTwdc88J6X2Hl5YxsYYiT2PLUOsqr | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6|ARID2-related disorder | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6|ARID2-related disorder | |
null | ga4gh:VA.DJdqTwdc88J6X2Hl5YxsYYiT2PLUOsqr | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6|ARID2-related disorder | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6|ARID2-related disorder | |
rs2137959683 | rs2137959683 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2137959683 | rs2137959683 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555139310 | rs1555139310 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555139310 | rs1555139310 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2137959875 | rs2137959875 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy | genotype: heterozygous (one copy) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs2137959875 | rs2137959875 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy | genotype: homozygous (two copies) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs2547601624 | rs2547601624 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID2 | Inborn genetic diseases | |
rs2547601624 | rs2547601624 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID2 | Inborn genetic diseases | |
null | ga4gh:VA.cAcSFPYlBjNIWbsk4e9WrR-GfiaPia0K | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
null | ga4gh:VA.cAcSFPYlBjNIWbsk4e9WrR-GfiaPia0K | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs1942707093 | rs1942707093 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1942707093 | rs1942707093 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs2138082983 | rs2138082983 | ClinVar: pathogenic (2★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138082983 | rs2138082983 | ClinVar: pathogenic (2★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555148625 | rs1555148625 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1555148625 | rs1555148625 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs2547641868 | rs2547641868 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547641868 | rs2547641868 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555152193 | rs1555152193 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1555152193 | rs1555152193 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs2138126544 | rs2138126544 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138126544 | rs2138126544 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1943228378 | rs1943228378 | ClinVar: pathogenic (2★) — not provided|ARID2-related BAFopathy|Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided|ARID2-related BAFopathy|Coffin-Siris syndrome 6 | |
rs1943228378 | rs1943228378 | ClinVar: pathogenic (2★) — not provided|ARID2-related BAFopathy|Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided|ARID2-related BAFopathy|Coffin-Siris syndrome 6 | |
null | 12:45836802:T:TAACG | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45836802:T:TAACG | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547651122 | rs2547651122 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547651122 | rs2547651122 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138127522 | rs2138127522 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138127522 | rs2138127522 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555152246 | rs1555152246 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1555152246 | rs1555152246 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
null | 12:45836954:AATTAGGCCTTGACACATTAGG:A | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45836954:AATTAGGCCTTGACACATTAGG:A | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs796052242 | rs796052242 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs796052242 | rs796052242 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138130716 | rs2138130716 | ClinVar: likely_pathogenic (1★) — Neurodevelopmental delay | genotype: heterozygous (one copy) | null | cancer | ARID2 | Neurodevelopmental delay | |
rs2138130716 | rs2138130716 | ClinVar: likely_pathogenic (1★) — Neurodevelopmental delay | genotype: homozygous (two copies) | null | cancer | ARID2 | Neurodevelopmental delay | |
rs1943242602 | rs1943242602 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1943242602 | rs1943242602 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45837636:A:AG | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45837636:A:AG | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138132429 | rs2138132429 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy | genotype: heterozygous (one copy) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs2138132429 | rs2138132429 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy | genotype: homozygous (two copies) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs2138132620 | rs2138132620 | ClinVar: likely_pathogenic (1★) — ARID2-related BAFopathy | genotype: heterozygous (one copy) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs2138132620 | rs2138132620 | ClinVar: likely_pathogenic (1★) — ARID2-related BAFopathy | genotype: homozygous (two copies) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs2138136386 | rs2138136386 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138136386 | rs2138136386 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1943290352 | rs1943290352 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID2 | Inborn genetic diseases | |
rs1943290352 | rs1943290352 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID2 | Inborn genetic diseases | |
rs2547653183 | rs2547653183 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547653183 | rs2547653183 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs886041882 | rs886041882 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs886041882 | rs886041882 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
null | 12:45839477:TCATGTAG:T | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45839477:TCATGTAG:T | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45846908:AATAG:A | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45846908:AATAG:A | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 |
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