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
RS2139504287 COL4A2 Health Risk Pathogenic —
RS2139505830 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2139506946 ZEB1 Health Risk Likely pathogenic Posterior polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy
RS2139511447 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, SPTB-related disorder
RS2139513700 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2139514134 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2139519168 NALCN Health Risk Pathogenic/Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2139519333 NALCN Health Risk Likely pathogenic —
RS2139527991 OTX2 Health Risk Pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS2139528052 OTX2 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2139528313 OTX2 Health Risk Pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS2139528560 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2139528859 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS2139529394 OTX2 Health Risk Likely pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS2139530114 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2139531134 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139531503 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2139531559 CHD8 Health Risk Pathogenic —
RS2139533094 SPTB Health Risk Pathogenic —
RS2139533161 SPTB Health Risk Likely pathogenic SPTB-related disorder, SPTB-related disorder
RS2139533967 COL4A2 Health Risk Likely pathogenic —
RS2139534208 COL4A2 Health Risk Pathogenic —
RS2139534321 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS2139537197 COL4A2 Health Risk Likely pathogenic Intellectual disability, Cerebral palsy
RS2139537621 TPP2 Health Risk Pathogenic Evans syndrome, immunodeficiency
RS2139538715 COL4A2 Health Risk Likely pathogenic —
RS2139538791 COL4A2 Health Risk Likely pathogenic Cerebral palsy, Cerebral palsy
RS2139538797 COL4A2 Health Risk Pathogenic —
RS2139545313 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2139545657 SPTB Health Risk Likely pathogenic —
RS2139546760 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2139547046 TPP2 Health Risk Likely pathogenic Evans syndrome, immunodeficiency
RS2139552020 COL4A2 Health Risk Pathogenic —
RS2139552522 COL4A2 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, Porencephaly 2
RS2139553210 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Intraventricular hemorrhage
RS2139553655 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS2139555125 SPTB Health Risk Likely pathogenic —
RS2139555500 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2139555775 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS2139558301 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS2139560751 SPTB Health Risk Likely pathogenic —
RS2139560811 SPTB Health Risk Pathogenic Elliptocytosis 3, Elliptocytosis 3
RS2139561056 SPTB Health Risk Likely pathogenic —
RS2139567892 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2139568866 SPTB Health Risk Likely pathogenic —
RS2139568919 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS2139569112 AP4S1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2139581674 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2139584419 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia 10, Primary ciliary dyskinesia 10
RS2139587357 SPTB Health Risk Pathogenic —
RS2139591243 DNAJC3 Health Risk Pathogenic Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
RS2139591770 TMEM260 Health Risk Pathogenic —
RS2139592237 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2139592956 SPTB Health Risk Likely pathogenic —
RS2139593716 SPTB Health Risk Likely pathogenic —
RS2139593958 ALDH18A1 Health Risk Likely pathogenic de Barsy syndrome, Autosomal dominant spastic paraplegia type 9
RS2139594261 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2139596055 SPTB Health Risk Likely pathogenic —
RS2139596180 SPTB Health Risk Likely pathogenic —
RS2139596300 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2139596820 SPTB Health Risk Pathogenic —
RS2139597781 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS2139602480 SPTB Health Risk Pathogenic —
RS2139602589 SPTB Health Risk Pathogenic —
RS2139603257 SPTB Health Risk Likely pathogenic —
RS2139604219 YY1 Health Risk Likely pathogenic —
RS2139604254 YY1 Health Risk Pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2139605753 YY1 Health Risk Pathogenic/Likely pathogenic Gabriele de Vries syndrome, Intellectual disability
RS2139605757 YY1 Health Risk Pathogenic —
RS2139605768 YY1 Health Risk Pathogenic —
RS2139605785 YY1 Health Risk Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2139605796 YY1 Health Risk Pathogenic/Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2139605815 YY1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2139605856 YY1 Health Risk Likely pathogenic —
RS2139606980 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2139609624 CDC42BPB Health Risk Pathogenic —
RS2139612433 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2139613030 SPTB Health Risk Pathogenic —
RS2139613101 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2139621075 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2139621272 ALDH18A1 Health Risk Pathogenic Hereditary spastic paraplegia 9A, Hereditary spastic paraplegia 9A
RS2139621988 ALDH18A1 Health Risk Pathogenic ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome
RS2139622959 ZEB1 Health Risk Likely pathogenic Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
RS2139626950 TMEM260 Health Risk Likely pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS2139628261 SPTB Health Risk Likely pathogenic —
RS2139628331 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139628344 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139628367 SPTB Health Risk Likely pathogenic —
RS2139628382 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139628524 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139628604 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139628826 SPTB Health Risk Likely pathogenic —
RS2139629943 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139632228 SPTB Health Risk Likely pathogenic —
RS2139632398 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2139640370 NAXD Health Risk Likely pathogenic NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
RS2139642530 SPTB Health Risk Pathogenic —
RS2139642879 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A
RS2139643358 DNAJC3 Health Risk Pathogenic Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
RS2139645825 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
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