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
RS1556889640 SMC1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556890135 SMC1A Health Risk Pathogenic/Likely pathogenic SMC1A-related cohesinopathy, Congenital muscular hypertrophy-cerebral syndrome
RS1556890139 SMC1A Health Risk Likely pathogenic —
RS1556890815 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1556891045 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1556891059 SMC1A Health Risk Likely pathogenic —
RS1556891104 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1556892359 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1556894502 HSD17B10 Health Risk Pathogenic/Likely pathogenic HSD10 mitochondrial disease, HSD10 mitochondrial disease
RS1556909287 HUWE1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked syndromic
RS1556909335 HUWE1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556910184 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1556910261 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1556911750 HUWE1 Health Risk Likely pathogenic —
RS1556912828 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1556913180 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1556913258 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1556913268 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1556914274 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS1556917057 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556917126 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1556923333 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1556927963 HUWE1 Health Risk Likely pathogenic —
RS1556928966 HUWE1 Health Risk Likely pathogenic —
RS1556929259 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556930459 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1556930579 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiovascular phenotype
RS1556930769 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556930839 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556955128 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1556962223 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556962271 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556962326 DMD Health Risk Pathogenic —
RS1556962392 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS1556962571 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1556967227 FTSJ1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556974682 PORCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1556974804 PORCN Health Risk Likely pathogenic —
RS1556975151 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS1556978515 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1556980528 DMD Health Risk Pathogenic/Likely pathogenic Elevated circulating creatine kinase concentration, Duchenne muscular dystrophy
RS1556992691 BGN Health Risk Pathogenic/Likely pathogenic Meester-Loeys syndrome, Meester-Loeys syndrome
RS1556993081 BGN Health Risk Conflicting classifications of pathogenicity Meester-Loeys syndrome, Meester-Loeys syndrome
RS1556993331 BGN Health Risk Likely pathogenic Meester-Loeys syndrome, Meester-Loeys syndrome
RS1557006239 WAS Health Risk Pathogenic/Likely pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS1557006316 WAS Health Risk Likely pathogenic —
RS1557006354 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS1557006474 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS1557006534 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS1557006558 WAS Health Risk Pathogenic —
RS1557006672 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS1557006873 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1557006903 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1557007011 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS1557007035 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS1557007123 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS1557007165 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS1557007312 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Thrombocytopenia 1
RS1557010214 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS1557011872 DMD Health Risk Pathogenic —
RS1557011929 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557011973 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557020001 GATA1 Health Risk Pathogenic GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS1557020021 GATA1 Health Risk Pathogenic Acute megakaryoblastic leukemia in down syndrome, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS1557020430 GATA1 Health Risk Conflicting classifications of pathogenicity GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS1557024919 HUWE1 Health Risk Pathogenic Intellectual disability, X-linked syndromic
RS1557034957 ATRX Health Risk Likely pathogenic —
RS1557036757 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1557036768 HUWE1 Health Risk Pathogenic Intellectual disability, X-linked syndromic
RS1557038061 DMD Health Risk Pathogenic Cardiovascular phenotype, Duchenne muscular dystrophy
RS1557038198 DMD Health Risk Pathogenic —
RS1557041077 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1557041239 PQBP1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557041672 PQBP1 Health Risk Pathogenic/Likely pathogenic Renpenning syndrome, PQBP1-related disorder
RS1557042798 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1557042808 SLC35A2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, SLC35A2-congenital disorder of glycosylation
RS1557042824 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1557043131 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1557043133 SLC35A2 Health Risk Likely pathogenic —
RS1557043621 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1557043622 SLC35A2 Health Risk Likely pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1557043650 SLC35A2 Health Risk Likely pathogenic non-lesional focal epilepsy, non-lesional focal epilepsy
RS1557043678 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1557043682 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1557043770 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1557043789 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1557043855 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1557044030 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1557044165 SLC6A8 Health Risk Pathogenic —
RS1557044442 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1557044461 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1557044569 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1557044940 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1557045066 SLC6A8 Health Risk Pathogenic Inborn genetic diseases, Creatine transporter deficiency
RS1557045140 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1557045250 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Intellectual disability
RS1557045267 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Inborn genetic diseases
RS1557045296 SLC6A8 Health Risk Likely pathogenic Abnormal facial shape, Low-set ears
RS1557045333 SLC6A8 Health Risk Pathogenic/Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1557045456 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine transporter deficiency, Creatine transporter deficiency
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