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
RS1805578327 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia 5A
RS1805601610 MNX1 Health Risk Likely pathogenic —
RS1805613575 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805615555 SYNCRIP Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1805694320 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805723571 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805724910 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1805733963 CHD7 Health Risk Likely pathogenic —
RS1805737676 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1805742175 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1805742556 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1805743392 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1805745954 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1805748326 TTPA Health Risk Pathogenic —
RS1805748956 TTPA Health Risk Conflicting classifications of pathogenicity —
RS1805754682 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1805777437 FOXP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1805809633 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1805830692 ARFGEF1 Health Risk Pathogenic Delayed speech and language development, Atypical behavior
RS1805853366 RP1 Health Risk Pathogenic —
RS1805854701 RP1 Health Risk Pathogenic —
RS1805854944 RP1 Health Risk Pathogenic —
RS1805856024 RP1 Health Risk Pathogenic —
RS1805857731 RP1 Health Risk Pathogenic —
RS1805867082 RP1 Health Risk Pathogenic —
RS1805879513 RP1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 1
RS1805889752 BPNT2 Health Risk Likely pathogenic Chondrodysplasia with joint dislocations, gPAPP type
RS1805900125 RP1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1805920281 ZP3 Health Risk Pathogenic —
RS1805943625 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1805946988 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1805949598 CHD7 Health Risk Likely pathogenic —
RS1805978316 RP1 Health Risk Pathogenic —
RS1805984836 RP1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 1
RS1805986090 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1806006713 ATP6V0A4 Health Risk Pathogenic Distal renal tubular acidosis, Distal renal tubular acidosis
RS1806015333 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis, distal
RS1806016526 ATP6V0A4 Health Risk Likely pathogenic —
RS1806020324 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1806028872 RP1 Health Risk Pathogenic —
RS1806031833 RP1 Health Risk Pathogenic —
RS1806032708 RP1 Health Risk Pathogenic —
RS1806033441 RP1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1806033536 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa
RS1806033714 RP1 Health Risk Pathogenic —
RS1806033844 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1806036718 RP1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1806037949 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal disorder
RS1806040543 RP1 Health Risk Pathogenic —
RS1806041389 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1806042579 RP1 Health Risk Pathogenic —
RS1806043158 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1806048148 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1806054045 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1806057300 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1806057524 RP1 Health Risk Pathogenic —
RS1806061474 RP1 Health Risk Pathogenic —
RS1806069993 RP1 Health Risk Pathogenic —
RS1806079109 RP1 Health Risk Pathogenic —
RS1806079331 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 1
RS1806088386 RP1 Health Risk Pathogenic —
RS1806088809 RP1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 1
RS1806096563 RP1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1806099964 RP1 Health Risk Pathogenic —
RS1806103875 RP1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1806120012 RP1 Health Risk Pathogenic —
RS1806124182 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1806128079 RP1 Health Risk Pathogenic —
RS1806128576 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1806144355 RP1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1806147660 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS1806153102 RP1 Health Risk Pathogenic —
RS1806160527 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1806171937 RP1 Health Risk Pathogenic —
RS1806173195 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1806173661 CHD7 Health Risk Pathogenic —
RS1806177003 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1806185357 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1806199541 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS1806205612 RP1 Health Risk Pathogenic —
RS1806207146 RP1 Health Risk Pathogenic —
RS1806539260 SYNCRIP Health Risk Likely pathogenic —
RS1806573538 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1806590811 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1806601043 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1806602099 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS180670511 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS180671269 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS1806730582 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS180673806 FCSK Health Risk Conflicting classifications of pathogenicity —
RS180675584 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1806756940 FOXP2 Health Risk Pathogenic —
RS180678267 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS180680111 THPO Health Risk Conflicting classifications of pathogenicity Thrombocythemia 1, Thrombocythemia 1
RS180683888 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS1806900857 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS1806901488 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS180691490 DOCK10 Health Risk Conflicting classifications of pathogenicity —
RS1806926984 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS1806929934 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
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