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
RS1554806972 COL5A1 Health Risk Likely pathogenic —
RS1554806979 SETX Health Risk Likely pathogenic —
RS1554807146 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554807765 SETX Health Risk Likely pathogenic —
RS1554807812 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554808136 COL5A1 Health Risk Likely pathogenic —
RS1554808357 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554808625 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1554809093 ENG Health Risk Pathogenic —
RS1554809106 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1554809228 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554809229 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1554809244 ENG Health Risk Pathogenic —
RS1554809253 ENG Health Risk Pathogenic Palate telangiectasia, Spontaneous
RS1554809268 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554809331 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1554809348 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1554809355 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1554809361 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554809363 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1554809446 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1554809448 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554809450 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1554809455 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1554809513 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554809516 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1554810037 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1554810041 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1554810051 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS1554810066 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1554810125 ENG Health Risk Likely pathogenic —
RS1554810174 ENG Health Risk Pathogenic Cerebral arteriovenous malformation, Hereditary hemorrhagic telangiectasia
RS1554810177 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554810215 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1554810223 ENG Health Risk Likely pathogenic —
RS1554810232 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1554810234 ENG Health Risk Pathogenic —
RS1554810249 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1554810254 ENG Health Risk Pathogenic —
RS1554810257 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554810272 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554810378 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1554810405 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, ENG-related disorder
RS1554810408 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1554810413 ENG Health Risk Likely pathogenic —
RS1554810490 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1554810494 ENG Health Risk Pathogenic —
RS1554810506 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1554810510 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1554810921 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1554810928 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, ENG-related disorder
RS1554810932 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554810936 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, ENG-related disorder
RS1554812252 ENG Health Risk Pathogenic/Likely pathogenic See cases, Hereditary hemorrhagic telangiectasia
RS1554812253 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554812283 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1554812543 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554812661 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554812687 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554812917 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554812991 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554813029 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554813128 SETX Health Risk Pathogenic —
RS1554813253 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554813331 TSC1 Health Risk Pathogenic Malignant tumor of urinary bladder, Hereditary cancer-predisposing syndrome
RS1554813482 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554813568 TSC1 Health Risk Pathogenic —
RS1554813651 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554813783 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1554813788 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1554814266 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554814271 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554814652 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Lymphangiomyomatosis
RS1554814892 VCL Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1554814935 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554815049 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554815054 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Malignant tumor of urinary bladder
RS1554815246 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554815454 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554815476 TSC1 Health Risk Pathogenic —
RS1554815732 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS1554815756 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554815795 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1554815828 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554815829 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554815856 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554815889 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554815914 TSC1 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS1554815931 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554815972 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554816029 TSC1 Health Risk Pathogenic —
RS1554816076 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554816213 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554816245 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1554816354 COL27A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554816394 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554816403 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554816432 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Malignant tumor of urinary bladder
RS1554816541 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554816715 CUBN Health Risk Pathogenic/Likely pathogenic —
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