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
RS2545301360 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545302808 MYO15A Health Risk Likely pathogenic —
RS2545303014 MYO15A Health Risk Pathogenic —
RS2545303293 ALPL Health Risk Likely pathogenic —
RS2545303392 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2545303484 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545303525 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Adult hypophosphatasia
RS2545303533 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545303612 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphataemia or rickets, Hypophosphataemia or rickets
RS2545303628 ALPL Health Risk Likely pathogenic —
RS2545303681 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545303934 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2545303964 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2545303976 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Adult hypophosphatasia
RS2545304031 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545304123 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS2545304138 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545304244 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Inborn genetic diseases
RS2545305166 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545305297 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545305544 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545307219 AMBN Health Risk Likely pathogenic Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F
RS2545307720 MYO15A Health Risk Pathogenic —
RS2545308328 ADGRG1 Health Risk Pathogenic —
RS2545309610 MYO15A Health Risk Likely pathogenic —
RS2545309831 MYO15A Health Risk Pathogenic Hearing loss, autosomal recessive
RS2545310277 SMAD6 Health Risk Likely pathogenic —
RS2545310288 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, SMAD6-related disorder
RS2545311747 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545311830 SMAD6 Health Risk Likely pathogenic SMAD6-related disorder, SMAD6-related disorder
RS2545312650 SMAD6 Health Risk Likely pathogenic —
RS2545312740 ADGRG1 Health Risk Likely pathogenic —
RS2545312955 SLC25A12 Health Risk Likely pathogenic —
RS2545314200 ADGRG1 Health Risk Pathogenic —
RS2545314412 AMBN Health Risk Likely pathogenic —
RS2545314608 MYO15A Health Risk Likely pathogenic —
RS2545315463 AMBN Health Risk Pathogenic Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F
RS2545316118 ADGRG1 Health Risk Pathogenic —
RS2545317046 ALPL Health Risk Conflicting classifications of pathogenicity —
RS2545317081 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545317132 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545317352 ALPL Health Risk Likely pathogenic —
RS2545317362 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Adult hypophosphatasia
RS2545317559 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Adult hypophosphatasia
RS2545317590 ALPL Health Risk Pathogenic —
RS2545317757 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545317766 ALPL Health Risk Pathogenic —
RS2545317849 ALPL Health Risk Likely pathogenic Melanoma, Melanoma
RS2545317873 MYO15A Health Risk Likely pathogenic MYO15A-related disorder, MYO15A-related disorder
RS2545319654 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2545320150 MYO15A Health Risk Pathogenic —
RS2545320462 MYO15A Health Risk Likely pathogenic —
RS2545320471 MYO15A Health Risk Pathogenic —
RS2545322709 SMAD6 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545324149 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545324285 ALPL Health Risk Pathogenic —
RS2545324318 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Adult hypophosphatasia
RS2545324402 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS2545324498 ALPL Health Risk Pathogenic —
RS2545324707 ALPL Health Risk Pathogenic Hypophosphatasia, Adult hypophosphatasia
RS2545325224 MYO15A Health Risk Pathogenic —
RS2545325263 MYO15A Health Risk Pathogenic —
RS2545325366 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2545325387 MYO15A Health Risk Likely pathogenic —
RS2545327490 MYO15A Health Risk Pathogenic —
RS2545327639 MYO15A Health Risk Pathogenic —
RS2545333643 ALPL Health Risk Pathogenic —
RS2545334482 ALPL Health Risk Pathogenic —
RS2545334486 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545334534 MYO15A Health Risk Pathogenic —
RS2545334612 ALPL Health Risk Likely pathogenic —
RS2545334663 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Adult hypophosphatasia
RS2545334775 ALPL Health Risk Pathogenic —
RS2545334994 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS2545335005 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545335404 POR Health Risk Pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS2545335507 ADGRG1 Health Risk Pathogenic —
RS2545337256 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2545338409 MYO15A Health Risk Pathogenic —
RS2545338581 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545340801 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS2545340936 ADGRG1 Health Risk Pathogenic —
RS2545341177 NBEAL2 Health Risk Likely pathogenic NBEAL2-related disorder, NBEAL2-related disorder
RS2545341467 ADGRG1 Health Risk Likely pathogenic —
RS2545341993 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545342009 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545342154 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Adult hypophosphatasia
RS2545342209 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2545342410 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Adult hypophosphatasia
RS2545342765 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545342795 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Infantile hypophosphatasia
RS2545343006 ALPL Health Risk Pathogenic —
RS2545343550 ENAM Health Risk Likely pathogenic —
RS2545345371 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545345449 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545346977 MYO15A Health Risk Likely pathogenic —
RS2545347145 ALPL Health Risk Pathogenic —
RS2545347156 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2545347197 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545347375 ALPL Health Risk Likely pathogenic —
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