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
RS1553259649 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1553259651 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1553259656 MPZ Health Risk Likely pathogenic Dejerine-Sottas disease, Dejerine-Sottas disease
RS1553259662 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1553259663 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1553259664 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1553259683 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1553259691 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1553259697 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1553259703 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1553259707 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease
RS1553259760 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1553259790 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1553259792 MPZ Health Risk Likely pathogenic —
RS1553259811 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1553259835 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1553260014 MPZ Health Risk Pathogenic —
RS1553260017 MPZ Health Risk Pathogenic —
RS1553260321 CRB1 Health Risk Pathogenic Macular dystrophy, Retinitis pigmentosa 12
RS1553260517 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553260596 SDHC Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1553261118 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553261372 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553261387 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553261461 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1553261464 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553261468 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1553261476 USH2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553261478 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553261479 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553261757 SDHC Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553261768 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1553261855 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS1553261858 LMNA Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2
RS1553261891 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation
RS1553261898 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553261977 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553261982 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553262007 LMNA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Emery-Dreifuss muscular dystrophy 2
RS1553262031 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553262199 LAMC2 Health Risk Pathogenic —
RS1553262411 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553262429 GJC2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553262430 GJC2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553262438 GJC2 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1553262444 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1553262546 GJC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553262957 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1553263218 CRB1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS1553263326 NTRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
RS1553263549 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1553263572 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1553263639 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553263680 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS1553263732 RYR2 Health Risk Likely pathogenic —
RS1553263875 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1553263907 RYR2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553264033 KIF14 Health Risk Pathogenic Microcephaly 20, primary
RS1553264036 KIF14 Health Risk Pathogenic Microcephaly 20, primary
RS1553264218 SDHC Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1553264593 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553264624 LMNA Health Risk Likely pathogenic Muscular dystrophy, Muscular dystrophy
RS1553264644 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553264647 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 11 conditions
RS1553264668 LMNA Health Risk Likely pathogenic Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1553264669 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS1553264725 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS1553264773 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS1553264873 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS1553265154 ASH1L Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 52
RS1553265165 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265177 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1553265180 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS1553265189 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS1553265328 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265342 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265369 LMNA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Charcot-Marie-Tooth disease type 2
RS1553265433 LMNA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Charcot-Marie-Tooth disease type 2
RS1553265436 LMNA Health Risk Pathogenic Muscular dystrophy, Muscular dystrophy
RS1553265455 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1553265606 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1553265630 LMNA Health Risk Pathogenic —
RS1553265647 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS1553265660 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1553265733 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265736 LMNA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2
RS1553265739 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS1553265755 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1553265760 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265761 LMNA Health Risk Likely pathogenic Muscular dystrophy, Emery-Dreifuss muscular dystrophy 2
RS1553265770 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553265794 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553265817 SDHC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS1553265829 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553265865 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1553265902 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553265924 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553265999 LMNA Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS1553266024 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553266048 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
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