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
RS2114014389 TFAP2A Health Risk Pathogenic —
RS2114014460 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, TFAP2A-related disorder
RS2114032531 GM2A Health Risk Pathogenic Tay-Sachs disease, variant AB
RS2114236281 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114236416 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS2114236937 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS2114237186 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114237595 PEX6 Health Risk Likely pathogenic —
RS2114238399 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114238521 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114240428 PEX6 Health Risk Likely pathogenic —
RS2114241031 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS2114242538 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114242547 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114242907 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114242920 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS2114244815 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114247385 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114247458 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS2114247797 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114248084 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114248288 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114248372 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2114276133 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114276308 COL10A1 Health Risk Likely pathogenic —
RS2114276382 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114276465 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114276490 COL10A1 Health Risk Likely pathogenic —
RS2114276588 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2114276683 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114276718 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114276886 COL10A1 Health Risk Pathogenic —
RS2114276916 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2114276983 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2114277437 COL10A1 Health Risk Pathogenic —
RS2114277507 COL10A1 Health Risk Likely pathogenic —
RS2114277685 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2114277776 COL10A1 Health Risk Likely pathogenic —
RS2114277790 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2114277897 COL10A1 Health Risk Pathogenic —
RS2114278254 COL10A1 Health Risk Pathogenic/Likely pathogenic —
RS2114278594 COL10A1 Health Risk Likely pathogenic —
RS2114278703 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2114278741 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2114278893 COL10A1 Health Risk Likely pathogenic —
RS2114278931 COL10A1 Health Risk Likely pathogenic —
RS2114279043 COL10A1 Health Risk Likely pathogenic —
RS2114283106 GJA1 Health Risk Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
RS2114283459 GJA1 Health Risk Likely pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS2114283487 GJA1 Health Risk Likely pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS2114283819 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS2114320699 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114339116 TRDN Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2114357233 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2114391000 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114391108 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114403750 SEC63 Health Risk Likely pathogenic SEC63-related disorder, Autosomal dominant polycystic liver disease
RS2114406508 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114406531 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114420247 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114420319 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114426916 SEC63 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114432671 LAMA2 Health Risk Pathogenic Congenital muscular dystrophy, Congenital muscular dystrophy
RS2114434218 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114436209 TRDN Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
RS2114444927 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS2114445929 WASF1 Health Risk Likely pathogenic Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures
RS2114446436 WASF1 Health Risk Likely pathogenic —
RS2114446923 SEC63 Health Risk Pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS2114447040 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114450848 LAMA2 Health Risk Likely pathogenic Proximal muscle weakness, Proximal muscle weakness
RS2114451064 LAMA2 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS2114451604 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114453997 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114454119 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114458613 SEC63 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114458654 TNFAIP3 Health Risk Pathogenic —
RS2114458929 TNFAIP3 Health Risk Pathogenic —
RS2114459565 TNFAIP3 Health Risk Likely pathogenic —
RS2114460279 TNFAIP3 Health Risk Pathogenic —
RS2114460969 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114461992 SEC63 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114462231 IFNGR1 Health Risk Pathogenic Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
RS2114462360 IFNGR1 Health Risk Pathogenic Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
RS2114469138 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS2114473419 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS2114476431 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114476485 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114476499 SEC63 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114478790 TNFAIP3 Health Risk Pathogenic —
RS2114478944 TNFAIP3 Health Risk Pathogenic —
RS2114485125 TNFAIP3 Health Risk Likely pathogenic —
RS2114487759 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2114489353 BVES Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
RS2114490906 TNFAIP3 Health Risk Pathogenic/Likely pathogenic Autoinflammatory syndrome, familial
RS2114491041 TNFAIP3 Health Risk Pathogenic —
RS2114493974 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114494356 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114494398 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114494623 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
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