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
RS2545249385 ABCB11 Health Risk Pathogenic ABCB11-related disorder, ABCB11-related disorder
RS2545249795 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545250765 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545250857 DES Health Risk Likely pathogenic —
RS2545251600 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545252983 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS2545253039 PINK1 Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS2545253097 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545253453 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545254803 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545254942 MYO15A Health Risk Likely pathogenic —
RS2545254961 MYO15A Health Risk Pathogenic —
RS2545255158 MYO15A Health Risk Pathogenic —
RS2545255266 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545255397 DES Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Desmin-related myofibrillar myopathy
RS2545255528 SLC25A12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545255549 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545256087 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545258135 MYO15A Health Risk Likely pathogenic —
RS2545259458 MYO15A Health Risk Pathogenic —
RS2545259625 PINK1 Health Risk Likely pathogenic PINK1-related disorder, Autosomal recessive early-onset Parkinson disease 6
RS2545261867 MYO15A Health Risk Pathogenic —
RS2545261985 MYO15A Health Risk Pathogenic —
RS2545262131 MYO15A Health Risk Pathogenic —
RS2545262156 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2545264595 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS2545264703 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545264805 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS2545265594 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545265597 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545266499 MYO15A Health Risk Pathogenic —
RS2545266506 MYO15A Health Risk Pathogenic —
RS2545266580 ABCB11 Health Risk Pathogenic —
RS2545266793 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545266943 MYO15A Health Risk Pathogenic —
RS2545267203 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545267498 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545267790 PINK1 Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS2545268569 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545268573 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS2545268950 MYO15A Health Risk Likely pathogenic —
RS2545270997 ABCB11 Health Risk Pathogenic —
RS2545271813 NBEAL2 Health Risk Likely pathogenic NBEAL2-related disorder, NBEAL2-related disorder
RS2545271850 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545271927 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545271954 MYO15A Health Risk Pathogenic —
RS2545272260 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545272431 ABCB11 Health Risk Pathogenic —
RS2545272467 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2545275989 MYO15A Health Risk Pathogenic —
RS2545276155 MYO15A Health Risk Pathogenic —
RS2545276246 MYO15A Health Risk Pathogenic —
RS2545276422 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545276437 MYO15A Health Risk Likely pathogenic —
RS2545277848 KDR Health Risk Likely pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS2545277918 MYO15A Health Risk Pathogenic —
RS2545278113 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545280165 MYO15A Health Risk Likely pathogenic —
RS2545280168 MYO15A Health Risk Likely pathogenic —
RS2545280195 MYO15A Health Risk Pathogenic —
RS2545280490 MYO15A Health Risk Pathogenic —
RS2545280961 MYO15A Health Risk Likely pathogenic —
RS2545281070 MYO15A Health Risk Pathogenic —
RS2545282121 TRIM37 Health Risk Pathogenic —
RS2545283571 MYO15A Health Risk Pathogenic —
RS2545283716 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2545284485 TRIM37 Health Risk Pathogenic —
RS2545285184 MYO15A Health Risk Likely pathogenic —
RS2545286231 MYO15A Health Risk Pathogenic —
RS2545287207 MYO15A Health Risk Likely pathogenic —
RS2545290283 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545291966 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545291979 ALPL Health Risk Likely pathogenic —
RS2545292172 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545292224 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545292484 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2545292896 MYO15A Health Risk Pathogenic —
RS2545292934 MYO15A Health Risk Pathogenic —
RS2545293159 MYO15A Health Risk Pathogenic —
RS2545294406 MYO15A Health Risk Pathogenic —
RS2545295422 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545295522 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545295529 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545295699 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545295851 MYO15A Health Risk Pathogenic —
RS2545297260 MYO15A Health Risk Likely pathogenic —
RS2545298389 ALPL Health Risk Pathogenic Adult hypophosphatasia, Hypophosphatasia
RS2545298399 ALPL Health Risk Pathogenic —
RS2545298474 TLK2 Health Risk Likely pathogenic TLK2-related disorder, TLK2-related disorder
RS2545298581 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545298833 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545298876 ALPL Health Risk Pathogenic —
RS2545298994 ABCB11 Health Risk Likely pathogenic —
RS2545299014 ALPL Health Risk Conflicting classifications of pathogenicity Infantile hypophosphatasia, Infantile hypophosphatasia
RS2545299161 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Childhood hypophosphatasia
RS2545299251 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Adult hypophosphatasia
RS2545299615 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545299657 ALPL Health Risk Likely pathogenic Childhood hypophosphatasia, Adult hypophosphatasia
RS2545299717 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545300407 ABCB11 Health Risk Pathogenic —
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