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
RS1558111861 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1558112968 FLVCR1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1558115754 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1558115970 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1558118957 FLVCR1 Health Risk Pathogenic —
RS1558119445 GJC2 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1558121050 FLVCR1 Health Risk Pathogenic Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS1558121260 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1558123212 IBA57 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3
RS1558123786 COA6 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS1558127317 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1558132353 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1558132909 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, LMNA-related disorder
RS1558133157 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1558133435 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1558133731 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1558135172 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1558138741 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS1558141330 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1558146243 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1558146278 ASH1L Health Risk Pathogenic —
RS1558146453 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Retinitis pigmentosa 39
RS1558146829 ASH1L Health Risk Conflicting classifications of pathogenicity ASH1L-related disorder, ASH1L-related disorder
RS1558146839 LAMB3 Health Risk Pathogenic —
RS1558148010 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS1558148080 LAMB3 Health Risk Pathogenic —
RS1558148865 ZBTB18 Health Risk Likely pathogenic —
RS1558149683 ASH1L Health Risk Likely pathogenic —
RS1558149913 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS1558150761 LAMB3 Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz
RS1558150870 ASH1L Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 52
RS1558151466 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome
RS1558151555 USH2A Health Risk Pathogenic Usher syndrome type 2A, Ear malformation
RS1558151783 ASH1L Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1558151861 ASH1L Health Risk Pathogenic —
RS1558153783 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1558153994 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1558154010 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1558154149 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, MPZ-related disorder
RS1558154193 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS1558154644 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1558154754 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1558155838 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1558162157 CFH Health Risk Pathogenic Hemolytic uremic syndrome, atypical
RS1558163550 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1558164428 RORC Health Risk Likely pathogenic Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RS1558164647 SDHC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS1558168052 SLC35D1 Health Risk Conflicting classifications of pathogenicity —
RS1558182956 SDHC Health Risk Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1558184644 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS1558186011 HNRNPU Health Risk Conflicting classifications of pathogenicity HNRNPU-related disorder, Developmental and epileptic encephalopathy
RS1558188078 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS1558190256 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1558190339 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS1558190846 HNRNPU Health Risk Conflicting classifications of pathogenicity Seizure, Intellectual disability
RS1558190933 HNRNPU Health Risk Likely pathogenic —
RS1558191518 CENPF Health Risk Likely pathogenic —
RS1558192351 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS1558192723 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1558193255 TBX19 Health Risk Likely pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS1558193923 PKP1 Health Risk Pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS1558209947 DEGS1 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS1558209997 DEGS1 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS1558210191 DEGS1 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS1558211070 DEGS1 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1558212305 COQ8A Health Risk Likely pathogenic Coenzyme Q10 deficiency, primary
RS1558225569 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS1558225837 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS1558229491 USH2A Health Risk Pathogenic —
RS1558243381 TNNT2 Health Risk Likely pathogenic Dilated cardiomyopathy 1D, Dilated cardiomyopathy 1D
RS1558244152 USH2A;USH2A-AS2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1558245626 REN Health Risk Likely pathogenic —
RS1558249837 USH2A Health Risk Pathogenic —
RS1558251708 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1558251710 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1558251712 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 39
RS1558251742 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1558258551 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1558264109 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS1558264130 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1558264626 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1558269982 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1558275354 NBAS Health Risk Pathogenic —
RS1558275372 NBAS Health Risk Likely pathogenic NBAS-related disorder, NBAS-related disorder
RS1558276054 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1558276082 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1558276157 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1558280170 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hyperparathyroidism 1
RS1558282769 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1558283535 CDC73 Health Risk Likely pathogenic —
RS1558283792 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1558283853 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1558284033 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS1558284062 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1558304580 TPO Health Risk Likely pathogenic —
RS1558307375 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1558307853 YY1AP1 Health Risk Pathogenic Grange syndrome, Grange syndrome
RS1558308998 CACNA1E Health Risk Pathogenic Developmental and epileptic encephalopathy, 69
RS1558310707 USH2A Health Risk Pathogenic —
RS1558315590 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
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