SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2545050061 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545050080 FOXP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545050758 PTH1R Health Risk Likely pathogenic Primary failure of tooth eruption, Primary failure of tooth eruption
RS2545050964 MAP2K1 Health Risk Likely pathogenic Vascular malformation, Vascular malformation
RS2545052192 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545052244 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545052436 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545052480 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2545052746 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545053753 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545054512 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545054545 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545054659 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545054776 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545055011 MRPS7 Health Risk Likely pathogenic Premature ovarian insufficiency, Sensorineural hearing loss disorder
RS2545055357 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545055440 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545062256 CHD3;SCARNA21 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545076515 KANSL1 Health Risk Pathogenic —
RS2545076538 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2545076989 KANSL1 Health Risk Likely pathogenic —
RS2545079854 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2545081175 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2545081587 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2545083658 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2545084462 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545085136 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS2545087054 SUFU Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545095052 SUFU Health Risk Likely pathogenic —
RS2545095221 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2545095273 SUFU Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS2545095292 SUFU Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545100258 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS2545100262 SUFU Health Risk Likely pathogenic Gorlin syndrome, Medulloblastoma
RS2545100272 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS2545100510 SUFU Health Risk Likely pathogenic Basal cell nevus syndrome 2, Basal cell nevus syndrome 2
RS2545100610 ADGRG1 Health Risk Pathogenic —
RS2545101102 SUFU Health Risk Likely pathogenic SUFU-related disorder, SUFU-related disorder
RS2545101154 ADGRG1 Health Risk Pathogenic —
RS2545105047 ADGRG1 Health Risk Pathogenic —
RS2545105477 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545105490 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545106040 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545106217 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545106554 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2545106633 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545107177 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545107450 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS2545108426 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2545108452 ADGRG1 Health Risk Pathogenic —
RS2545108710 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545109306 ADGRG1 Health Risk Pathogenic —
RS2545109349 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545110016 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545110459 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545110718 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545110803 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, See cases
RS2545112217 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2545113885 SCAPER Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545114959 ADGRG1 Health Risk Pathogenic —
RS2545118734 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS2545119133 FOXP1 Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2545119735 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS2545120168 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545122691 FOXP1 Health Risk Pathogenic Rare genetic intellectual disability, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545122831 FOXP1 Health Risk Pathogenic —
RS2545124711 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, FOXP1-related disorder
RS2545125396 FOXP1 Health Risk Pathogenic —
RS2545126568 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS2545126621 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545128121 CHD3 Health Risk Likely pathogenic —
RS2545133690 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545134894 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545135357 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545135432 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545135451 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545136260 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545136483 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2545136612 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545137417 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2545137476 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545137679 BRIP1 Health Risk Pathogenic Ovarian cancer, Ovarian cancer
RS2545137784 NOG Health Risk Likely pathogenic NOG-related disorder, NOG-related disorder
RS2545137806 NOG Health Risk Likely pathogenic —
RS2545137857 NOG Health Risk Likely pathogenic Stapes ankylosis with broad thumbs and toes, Stapes ankylosis with broad thumbs and toes
RS2545137863 NOG Health Risk Likely pathogenic NOG-related disorder, NOG-related disorder
RS2545137908 NOG Health Risk Pathogenic —
RS2545137910 NOG Health Risk Pathogenic Stapes ankylosis with broad thumbs and toes, Stapes ankylosis with broad thumbs and toes
RS2545137924 NOG Health Risk Pathogenic —
RS2545138210 BRIP1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2545139110 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545139564 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545140257 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545140310 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545150760 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545150996 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2545151603 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545151832 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545151988 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545152748 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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