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 |
|---|---|---|---|---|---|---|---|
rs2138150784 | rs2138150784 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy | genotype: heterozygous (one copy) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs2138150784 | rs2138150784 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy | genotype: homozygous (two copies) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs1943488528 | rs1943488528 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1943488528 | rs1943488528 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs2547657751 | rs2547657751 | ClinVar: likely_pathogenic (1★) — ARID2-related disorder | genotype: heterozygous (one copy) | null | cancer | ARID2 | ARID2-related disorder | |
rs2547657751 | rs2547657751 | ClinVar: likely_pathogenic (1★) — ARID2-related disorder | genotype: homozygous (two copies) | null | cancer | ARID2 | ARID2-related disorder | |
null | 12:45848917:TA:T | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID2 | Inborn genetic diseases | |
null | 12:45848917:TA:T | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID2 | Inborn genetic diseases | |
rs879255529 | rs879255529 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs879255529 | rs879255529 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs113548014 | rs113548014 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs113548014 | rs113548014 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547658294 | rs2547658294 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547658294 | rs2547658294 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1943504725 | rs1943504725 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1943504725 | rs1943504725 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138157209 | rs2138157209 | ClinVar: pathogenic (1★) — Desmoplastic/nodular medulloblastoma | genotype: heterozygous (one copy) | null | cancer | ARID2 | Desmoplastic/nodular medulloblastoma | |
rs2138157209 | rs2138157209 | ClinVar: pathogenic (1★) — Desmoplastic/nodular medulloblastoma | genotype: homozygous (two copies) | null | cancer | ARID2 | Desmoplastic/nodular medulloblastoma | |
null | 12:45849752:G:GTA | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45849752:G:GTA | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45850072:TTCAGAGGAC:GGT | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45850072:TTCAGAGGAC:GGT | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1592118879 | rs1592118879 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1592118879 | rs1592118879 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs1592118927 | rs1592118927 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1592118927 | rs1592118927 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547659152 | rs2547659152 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs2547659152 | rs2547659152 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
null | 12:45850287:TCCATACC:T | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID2 | Inborn genetic diseases | |
null | 12:45850287:TCCATACC:T | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID2 | Inborn genetic diseases | |
null | ga4gh:VA.QEpiXSUMZGFSxM-0zR0dzB7w9ulMe_2q | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | ga4gh:VA.QEpiXSUMZGFSxM-0zR0dzB7w9ulMe_2q | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138162739 | rs2138162739 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138162739 | rs2138162739 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45850562:TAC:T | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45850562:TAC:T | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1343039962 | rs1343039962 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy | genotype: heterozygous (one copy) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs1343039962 | rs1343039962 | ClinVar: pathogenic (1★) — ARID2-related BAFopathy | genotype: homozygous (two copies) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs1555154946 | rs1555154946 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555154946 | rs1555154946 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs796052240 | rs796052240 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6|not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6|not provided | |
rs796052240 | rs796052240 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6|not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6|not provided | |
rs2138165087 | rs2138165087 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138165087 | rs2138165087 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138165644 | rs2138165644 | ClinVar: pathogenic (1★) — Neurodevelopmental disorder | genotype: heterozygous (one copy) | null | cancer | ARID2 | Neurodevelopmental disorder | |
rs2138165644 | rs2138165644 | ClinVar: pathogenic (1★) — Neurodevelopmental disorder | genotype: homozygous (two copies) | null | cancer | ARID2 | Neurodevelopmental disorder | |
rs1555155026 | rs1555155026 | ClinVar: pathogenic (2★) — Coffin-Siris syndrome 6|not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6|not provided | |
rs1555155026 | rs1555155026 | ClinVar: pathogenic (2★) — Coffin-Siris syndrome 6|not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6|not provided | |
rs2138165905 | rs2138165905 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138165905 | rs2138165905 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1943537473 | rs1943537473 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID2 | Inborn genetic diseases | |
rs1943537473 | rs1943537473 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID2 | Inborn genetic diseases | |
rs2138166428 | rs2138166428 | ClinVar: likely_pathogenic (1★) — ARID2-related BAFopathy | genotype: heterozygous (one copy) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs2138166428 | rs2138166428 | ClinVar: likely_pathogenic (1★) — ARID2-related BAFopathy | genotype: homozygous (two copies) | null | cancer | ARID2 | ARID2-related BAFopathy | |
rs1057524391 | rs1057524391 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1057524391 | rs1057524391 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
null | 12:45851104:CT:C | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45851104:CT:C | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555155110 | rs1555155110 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555155110 | rs1555155110 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138168418 | rs2138168418 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138168418 | rs2138168418 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138168655 | rs2138168655 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs2138168655 | rs2138168655 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs2138170893 | rs2138170893 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138170893 | rs2138170893 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555155252 | rs1555155252 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555155252 | rs1555155252 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | ga4gh:VA.Bo1uWYZkPJULVTsNVgLcQw6_ypQZGxLl | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | ga4gh:VA.Bo1uWYZkPJULVTsNVgLcQw6_ypQZGxLl | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1555155263 | rs1555155263 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID2 | Inborn genetic diseases | |
rs1555155263 | rs1555155263 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID2 | Inborn genetic diseases | |
rs2547661677 | rs2547661677 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs2547661677 | rs2547661677 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs2547662010 | rs2547662010 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547662010 | rs2547662010 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs79730631 | rs79730631 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs79730631 | rs79730631 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45851776:C:CA | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45851776:C:CA | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45851841:GA:G | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
null | 12:45851841:GA:G | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
rs2138174785 | rs2138174785 | ClinVar: pathogenic (2★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138174785 | rs2138174785 | ClinVar: pathogenic (2★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45852028:C:CA | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID2 | Inborn genetic diseases | |
null | 12:45852028:C:CA | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID2 | Inborn genetic diseases | |
rs1592121202 | rs1592121202 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1592121202 | rs1592121202 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45852137:ACAGAACT:A | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45852137:ACAGAACT:A | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs1592121317 | rs1592121317 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID2 | not provided | |
rs1592121317 | rs1592121317 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID2 | not provided | |
null | 12:45852225:G:GA | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
null | 12:45852225:G:GA | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547663091 | rs2547663091 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2547663091 | rs2547663091 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138177726 | rs2138177726 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138177726 | rs2138177726 | ClinVar: likely_pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138177931 | rs2138177931 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: heterozygous (one copy) | null | cancer | ARID2 | Coffin-Siris syndrome 6 | |
rs2138177931 | rs2138177931 | ClinVar: pathogenic (1★) — Coffin-Siris syndrome 6 | genotype: homozygous (two copies) | null | cancer | ARID2 | Coffin-Siris syndrome 6 |
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