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 |
|---|---|---|---|---|---|---|---|
rs2147540656 | ga4gh:VA.K4qDQwiRMi0ThZ_MkwWhNWlSbPifk8An | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2147540656 | ga4gh:VA.K4qDQwiRMi0ThZ_MkwWhNWlSbPifk8An | ClinVar: likely_pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2147540656 | ga4gh:VA.Lze6aDK146g3qsZqq_ctXpfhNLGzquuH | ClinVar: pathogenic (2★) — Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome | |
rs2147540656 | ga4gh:VA.Lze6aDK146g3qsZqq_ctXpfhNLGzquuH | ClinVar: pathogenic (2★) — Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome | |
null | ga4gh:VA.H_JF11zR_5lahmTr-Wiy1l9HyvlRLIxL | ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
null | ga4gh:VA.H_JF11zR_5lahmTr-Wiy1l9HyvlRLIxL | ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs1131691681 | rs1131691681 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs1131691681 | rs1131691681 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
rs1064795250 | rs1064795250 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | AR | not provided | |
rs1064795250 | rs1064795250 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | AR | not provided | |
null | ga4gh:VA.b6R7C1Hw1xlTflvIu4ylkpGeseVnf56_ | ClinVar: likely_pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
null | ga4gh:VA.b6R7C1Hw1xlTflvIu4ylkpGeseVnf56_ | ClinVar: likely_pathogenic (2★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2147540838 | rs2147540838 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: heterozygous (one copy) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2147540838 | rs2147540838 | ClinVar: pathogenic (1★) — Androgen resistance syndrome|Kennedy disease | genotype: homozygous (two copies) | null | cancer | AR | Androgen resistance syndrome|Kennedy disease | |
rs2147540901 | rs2147540901 | ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: heterozygous (one copy) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs2147540901 | rs2147540901 | ClinVar: likely_pathogenic (1★) — Kennedy disease|Androgen resistance syndrome | genotype: homozygous (two copies) | null | cancer | AR | Kennedy disease|Androgen resistance syndrome | |
rs797045262 | rs797045262 | ClinVar: pathogenic (2★) — not provided|Coffin-Siris syndrome 1|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided|Coffin-Siris syndrome 1|Intellectual disability, autosomal dominant 14 | |
rs797045262 | rs797045262 | ClinVar: pathogenic (2★) — not provided|Coffin-Siris syndrome 1|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided|Coffin-Siris syndrome 1|Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.UY42wk0mqiSZrKamwUchVo--uWN5KAJ1 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.UY42wk0mqiSZrKamwUchVo--uWN5KAJ1 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124740433 | rs2124740433 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs2124740433 | rs2124740433 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2124740536 | rs2124740536 | ClinVar: pathogenic (2★) — ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | |
rs2124740536 | rs2124740536 | ClinVar: pathogenic (2★) — ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | |
rs2124740577 | rs2124740577 | ClinVar: pathogenic (1★) — Non-immune hydrops fetalis | genotype: heterozygous (one copy) | null | cancer | ARID1A | Non-immune hydrops fetalis | |
rs2124740577 | rs2124740577 | ClinVar: pathogenic (1★) — Non-immune hydrops fetalis | genotype: homozygous (two copies) | null | cancer | ARID1A | Non-immune hydrops fetalis | |
rs2525554035 | rs2525554035 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2525554035 | rs2525554035 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs797045263 | rs797045263 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs797045263 | rs797045263 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2525556760 | rs2525556760 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2525556760 | rs2525556760 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124742621 | rs2124742621 | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|ARID1A-related disorder | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|ARID1A-related disorder | |
rs2124742621 | rs2124742621 | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|ARID1A-related disorder | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|ARID1A-related disorder | |
rs757919500 | rs757919500 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs757919500 | rs757919500 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs1557570794 | rs1557570794 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1557570794 | rs1557570794 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124743589 | rs2124743589 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs2124743589 | rs2124743589 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.WlliBo0XTgGsDJt1owHn54aE5DxHA3A7 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.WlliBo0XTgGsDJt1owHn54aE5DxHA3A7 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2525562224 | rs2525562224 | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID1A | Inborn genetic diseases | |
rs2525562224 | rs2525562224 | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID1A | Inborn genetic diseases | |
rs1553146165 | rs1553146165 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1553146165 | rs1553146165 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2525563601 | rs2525563601 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2525563601 | rs2525563601 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1336228861 | rs1336228861 | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID1A | Inborn genetic diseases | |
rs1336228861 | rs1336228861 | ClinVar: likely_pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID1A | Inborn genetic diseases | |
rs1232964733 | rs1232964733 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1232964733 | rs1232964733 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2080284671 | rs2080284671 | ClinVar: likely_pathogenic (1★) — ARID1A-related disorder | genotype: heterozygous (one copy) | null | cancer | ARID1A | ARID1A-related disorder | |
rs2080284671 | rs2080284671 | ClinVar: likely_pathogenic (1★) — ARID1A-related disorder | genotype: homozygous (two copies) | null | cancer | ARID1A | ARID1A-related disorder | |
rs878853088 | rs878853088 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs878853088 | rs878853088 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs755066600 | rs755066600 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID1A | Inborn genetic diseases | |
rs755066600 | rs755066600 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID1A | Inborn genetic diseases | |
rs1557591264 | rs1557591264 | 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 | |
rs1557591264 | rs1557591264 | 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 | |
rs1057520585 | rs1057520585 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs1057520585 | rs1057520585 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | 1:26731250:AC:A | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
null | 1:26731250:AC:A | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2124788629 | rs2124788629 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124788629 | rs2124788629 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs781090386 | rs781090386 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs781090386 | rs781090386 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124789497 | rs2124789497 | ClinVar: pathogenic (2★) — not provided|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided|Intellectual disability, autosomal dominant 14 | |
rs2124789497 | rs2124789497 | ClinVar: pathogenic (2★) — not provided|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided|Intellectual disability, autosomal dominant 14 | |
rs2124792461 | rs2124792461 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124792461 | rs2124792461 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124792810 | rs2124792810 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124792810 | rs2124792810 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.5DaHsLEBYpP6_V1QdoYtpJXKOVxLYCdY | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.5DaHsLEBYpP6_V1QdoYtpJXKOVxLYCdY | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1064796564 | rs1064796564 | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
rs1064796564 | rs1064796564 | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
null | 1:26760904:CTG:C | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26760904:CTG:C | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124056600 | rs2124056600 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124056600 | rs2124056600 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.u8fIeIPKOoAHVL2oxilCeIvm5WbhZz5s | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.u8fIeIPKOoAHVL2oxilCeIvm5WbhZz5s | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.d1ipKkH3oy69WX5cFWApZLNJ8K9IZS5N | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.d1ipKkH3oy69WX5cFWApZLNJ8K9IZS5N | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.wRui5hR6uWXz7ZJQRkPA5fFrSNp--i_h | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.wRui5hR6uWXz7ZJQRkPA5fFrSNp--i_h | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2124063616 | rs2124063616 | ClinVar: pathogenic (1★) — not provided|Malignant tumor of urinary bladder | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided|Malignant tumor of urinary bladder | |
rs2124063616 | rs2124063616 | ClinVar: pathogenic (1★) — not provided|Malignant tumor of urinary bladder | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided|Malignant tumor of urinary bladder | |
rs2124063841 | rs2124063841 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs2124063841 | rs2124063841 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | 1:26762296:A:AG | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26762296:A:AG | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1570607996 | rs1570607996 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1570607996 | rs1570607996 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124081540 | rs2124081540 | ClinVar: pathogenic (1★) — ARID1A-related BAFopathy | genotype: heterozygous (one copy) | null | cancer | ARID1A | ARID1A-related BAFopathy | |
rs2124081540 | rs2124081540 | ClinVar: pathogenic (1★) — ARID1A-related BAFopathy | genotype: homozygous (two copies) | null | cancer | ARID1A | ARID1A-related BAFopathy | |
rs886042036 | rs886042036 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs886042036 | rs886042036 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided |
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