SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1057517767 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1057517769 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1057517770 MYCN Health Risk Likely pathogenic —
RS1057517771 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1057517773 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1057517774 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1057517776 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS1057517778 NR0B1 Health Risk Pathogenic —
RS1057517779 NR5A1 Health Risk Pathogenic/Likely pathogenic 46, XY sex reversal 3
RS1057517780 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1057517782 PAX6 Health Risk Pathogenic —
RS1057517783 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1057517784 PAX6 Health Risk Likely pathogenic —
RS1057517785 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1057517786 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation
RS1057517787 PHEX Health Risk Pathogenic —
RS1057517788 PHEX Health Risk Pathogenic —
RS1057517789 PHEX Health Risk Pathogenic/Likely pathogenic Thyroid cancer, nonmedullary
RS1057517790 PHEX Health Risk Pathogenic —
RS1057517791 PHEX Health Risk Pathogenic —
RS1057517792 PHEX Health Risk Pathogenic —
RS1057517793 PHEX Health Risk Pathogenic —
RS1057517794 PHEX Health Risk Pathogenic —
RS1057517795 PHEX Health Risk Likely pathogenic —
RS1057517796 PHEX Health Risk Likely pathogenic —
RS1057517797 PHEX Health Risk Conflicting classifications of pathogenicity —
RS1057517798 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1057517799 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1057517800 PHEX Health Risk Likely pathogenic —
RS1057517801 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057517802 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Rod-cone dystrophy
RS1057517803 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome
RS1057517804 PRDM5 Health Risk Likely pathogenic —
RS1057517805 PRKAR1A Health Risk Pathogenic —
RS1057517806 PRKAR1A Health Risk Pathogenic —
RS1057517807 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, PSAT1-related disorder
RS1057517808 PTCHD1 Health Risk Likely pathogenic —
RS1057517809 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1057517810 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1057517811 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1057517812 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1057517813 RAF1 Health Risk Likely pathogenic —
RS1057517814 RELN Health Risk Likely pathogenic —
RS1057517815 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS1057517816 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS1057517818 SDHC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS1057517819 SELENON Health Risk Likely pathogenic —
RS1057517820 SLC13A5 Health Risk Pathogenic —
RS1057517822 SLC2A1 Health Risk Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1057517823 SLURP1 Health Risk Likely pathogenic —
RS1057517824 SMAD6 Health Risk Likely pathogenic —
RS1057517825 SMARCB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 15
RS1057517826 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1057517827 SOX9 Health Risk Pathogenic —
RS1057517829 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS1057517830 STK11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1057517833 TBX5 Health Risk Pathogenic —
RS1057517834 TCOF1 Health Risk Pathogenic —
RS1057517835 TGIF1 Health Risk Pathogenic —
RS1057517836 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Abnormality of the skin
RS1057517837 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1057517839 TMIE Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
RS1057517840 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1057517841 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-related disorder
RS1057517842 TSC1 Health Risk Pathogenic —
RS1057517843 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS1057517844 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1057517845 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS1057517846 WWOX Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS1057517848 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1057517849 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1057517851 FBN1 Health Risk Pathogenic —
RS1057517853 SCN2A Health Risk Likely pathogenic —
RS1057517854 SCN2A Health Risk Likely pathogenic West syndrome, West syndrome
RS1057517855 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1057517856 STXBP1 Health Risk Pathogenic —
RS1057517857 MYO7A Health Risk Pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS1057517858 TUBA1A Health Risk Pathogenic Tubulinopathy, Inborn genetic diseases
RS1057517859 FOXG1 Health Risk Pathogenic —
RS1057517861 SOS1 Health Risk Likely pathogenic —
RS1057517862 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1057517865 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1057517866 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1057517869 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1057517873 RYR2 Health Risk Likely pathogenic —
RS1057517874 IKBKG Health Risk Pathogenic —
RS1057517876 UBE3A Health Risk Likely pathogenic —
RS1057517878 AIRE Health Risk Likely pathogenic —
RS1057517879 ATP6V1B2 Health Risk Likely pathogenic —
RS1057517880 STXBP1 Health Risk Likely pathogenic —
RS1057517881 MYH7 Health Risk Likely pathogenic —
RS1057517882 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1057517884 TRPV3 Health Risk Pathogenic Olmsted syndrome 1, Isolated focal non-epidermolytic palmoplantar keratoderma
RS1057517886 CEP290 Health Risk Likely pathogenic —
RS1057517887 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1057517888 ACTB Health Risk Likely pathogenic —
RS1057517891 POLG Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS1057517893 HUWE1 Health Risk Pathogenic —
RS1057517895 ALG12 Health Risk Likely pathogenic —
RS1057517896 PHEX Health Risk Pathogenic See cases, See cases
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