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
RS774192228 ERBB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774193307 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy
RS774193816 SLC5A6 Health Risk Likely pathogenic Neurodegeneration, infantile-onset
RS774194364 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS774194599 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS774194681 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS774195162 SALL1 Health Risk Pathogenic —
RS774195260 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy
RS774195387 CD40 Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 1
RS774195502 SCN3A Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS774195758 LYN Health Risk Conflicting classifications of pathogenicity —
RS774196176 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS774196458 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS774196917 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS774196978 ACADVL;DVL2 Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS774197372 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS774197508 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS774198161 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS774198344 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS774198365 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS774199742 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS774200289 MOCS2 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS774200574 NT5E Health Risk Likely pathogenic Hereditary arterial and articular multiple calcification syndrome, NT5E-related disorder
RS774201667 FLG Health Risk Pathogenic —
RS774202003 MYOZ2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS774202259 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease
RS774202843 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS774203119 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Inborn genetic diseases
RS774203605 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS774204108 TULP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 14
RS774204299 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Inborn genetic diseases
RS774204716 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS774206764 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS774206954 HERC1 Health Risk Pathogenic/Likely pathogenic —
RS774207778 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS774208069 MTFMT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774208594 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS774209201 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS774210583 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS774211361 RPE65 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS774211779 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS774212108 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS774212157 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS774214573 GNAT1 Health Risk Likely pathogenic —
RS774214806 GRM1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 13, Global developmental delay
RS774215008 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS774215025 PCARE Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS774216164 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS774216266 NR5A1 Health Risk Conflicting classifications of pathogenicity 46, XY disorder of sex development
RS774218187 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases
RS774218793 ROBO1 Health Risk Likely pathogenic —
RS774220315 MYO18B Health Risk Pathogenic —
RS774220803 COQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774221179 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS774221257 TP63 Health Risk Pathogenic/Likely pathogenic Ectrodactyly, ectodermal dysplasia
RS774221345 MYH7B Health Risk Conflicting classifications of pathogenicity —
RS774222226 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS774223061 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774224202 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS774224466 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS774224706 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS774225566 SYCE1 Health Risk Pathogenic Spermatogenic failure 15, Spermatogenic failure 15
RS774225594 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774225651 GPI Health Risk Conflicting classifications of pathogenicity —
RS774227542 MARS1 Health Risk Likely pathogenic Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS774227660 DNAH9 Health Risk Pathogenic/Likely pathogenic Ciliary dyskinesia, primary
RS774227790 MBD5 Health Risk Conflicting classifications of pathogenicity —
RS774228113 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS774228400 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS774228554 FN1 Health Risk Conflicting classifications of pathogenicity FN1-related disorder, Glomerulopathy with fibronectin deposits 2
RS774228764 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS774228870 CYP17A1 Health Risk Likely pathogenic —
RS774228933 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS774229391 MAK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS774229703 CDH3 Health Risk Conflicting classifications of pathogenicity —
RS774231051 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia type I
RS774231870 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS774232167 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS774233041 HPS6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774233325 PRKCSH Health Risk Pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS774233700 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774235292 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS774236450 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774237159 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS774237195 MRPS22 Health Risk Conflicting classifications of pathogenicity Ovarian dysgenesis 7, Premature ovarian failure
RS774241918 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS774242915 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS774242947 CYB5R3 Health Risk Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase, Central core myopathy
RS774242987 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS774243835 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS774245273 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS774245711 OPTN Health Risk Conflicting classifications of pathogenicity Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS774246167 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS774246307 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS774246940 RORB Health Risk Conflicting classifications of pathogenicity —
RS77424753 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS774248299 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS774248421 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS774248683 ABCC8 Health Risk Likely pathogenic —
RS774249198 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
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