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
RS1554880275 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554880848 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy
RS1554881272 PSAP Health Risk Likely pathogenic Inborn genetic diseases, Krabbe disease due to saposin A deficiency
RS1554882266 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1554882484 CFAP43 Health Risk Pathogenic Spermatogenic failure 19, Spermatogenic failure 19
RS1554882546 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554882652 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS1554882874 MICU1 Health Risk Likely pathogenic —
RS1554883705 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1554884207 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1554884575 VPS13B Health Risk Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS1554884733 VPS13B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554884838 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554884932 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554884966 HRAS Health Risk Pathogenic Costello syndrome, Costello syndrome
RS1554885530 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1554885535 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1554886159 SFXN4 Health Risk Pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
RS1554886713 TWNK Health Risk Likely pathogenic —
RS1554886769 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1554886795 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554886815 BMPR1A Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1554886816 BMPR1A Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome
RS1554886821 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554887028 TWNK Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS1554887046 TWNK Health Risk Likely pathogenic —
RS1554887075 TWNK Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Mitochondrial disease
RS1554887097 TWNK Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, 8 conditions
RS1554887207 TWNK Health Risk Likely pathogenic —
RS1554887213 TWNK Health Risk Pathogenic Mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS1554887222 TWNK Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS1554887443 RBP4 Health Risk Likely pathogenic —
RS1554888114 BMPR1A Health Risk Likely pathogenic —
RS1554888134 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554888310 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554888317 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554888329 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554888353 PDE6C Health Risk Pathogenic Achromatopsia, Achromatopsia
RS1554888848 PDE6C Health Risk Pathogenic Achromatopsia, Achromatopsia
RS1554888858 PDE6C Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS1554888861 PDE6C Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS1554888910 EHMT1 Health Risk Pathogenic —
RS1554888939 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554888965 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554888970 BMPR1A Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS1554888978 PDE6C Health Risk Pathogenic Achromatopsia, Achromatopsia
RS1554888986 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1554889905 PDE6C Health Risk Pathogenic/Likely pathogenic Achromatopsia, Achromatopsia
RS1554890059 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554890213 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1554890219 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1554890235 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554890236 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1554890324 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554890335 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554890348 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome
RS1554890392 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Neoplasm
RS1554890398 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554890400 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554890405 PTEN Health Risk Pathogenic —
RS1554890513 PDE6C Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS1554890727 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1554890734 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554890743 BMPR1A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554890759 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1554890761 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554890815 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1554891016 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554891032 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1554891043 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1554891044 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554891056 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554891075 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554891077 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554891089 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554891102 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554891308 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554891315 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1554891329 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554891331 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554891558 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554891570 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554891635 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1554891649 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1554891988 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS1554892004 VPS13B Health Risk Pathogenic —
RS1554892040 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554892764 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, HPS1-related disorder
RS1554892895 KCNQ1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1554892900 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1554892994 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1554893091 KCNQ1 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS1554893092 KCNQ1 Health Risk Pathogenic Jervell and Lange-Nielsen syndrome 1, Abnormality of the cardiovascular system
RS1554893228 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1554893260 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1554893737 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554893747 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554893756 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554893765 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554893792 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
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