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
RS1817882619 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817884791 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817884837 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817885411 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817887343 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817889027 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817890492 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817891356 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817892723 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817893036 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Exostoses
RS1817893887 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1817895168 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS1817896308 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS1817930102 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS181793341 PRKRA Health Risk Conflicting classifications of pathogenicity Dystonia 16, Dystonia 16
RS181794923 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS181795958 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS181796768 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS1817974591 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS181798411 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1817986949 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1817988877 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1817997640 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1818034687 TYRP1 Health Risk Pathogenic —
RS181805996 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Auditory neuropathy spectrum disorder
RS1818061499 TYRP1 Health Risk Pathogenic —
RS1818068588 TYRP1 Health Risk Pathogenic —
RS1818090088 FREM1 Health Risk Pathogenic —
RS1818111911 TYRP1 Health Risk Likely pathogenic —
RS1818111993 TYRP1 Health Risk Pathogenic —
RS1818126072 VLDLR Health Risk Pathogenic —
RS181812684 CPLANE1 Health Risk Conflicting classifications of pathogenicity CPLANE1-related disorder, CPLANE1-related disorder
RS1818182191 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS1818211696 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1818229100 TYRP1 Health Risk Likely pathogenic —
RS1818230091 TYRP1 Health Risk Pathogenic —
RS181823708 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 2
RS181826033 SLC25A19 Health Risk Pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS181826071 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS181827303 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS181827583 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary breast ovarian cancer syndrome
RS1818287644 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818287916 TYRP1 Health Risk Pathogenic —
RS1818289122 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818289261 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818289368 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818312039 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818316799 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818317027 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1818317328 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS181834806 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1818358114 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1818377152 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS181837747 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder
RS1818404451 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818405533 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818407147 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818417633 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS181844178 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS181844791 COLGALT1 Health Risk Pathogenic Brain small vessel disease 3, Brain small vessel disease 3
RS1818457032 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1818463608 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS181848049 MYPN Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1KK
RS181849614 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS181850748 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS181852740 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS181854060 PDGFRA Health Risk Conflicting classifications of pathogenicity Isolated cleft palate, Gastrointestinal stromal tumor
RS181854355 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS181856591 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, Multiple endocrine neoplasia type 2B
RS181858552 TRPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Trichorhinophalangeal syndrome
RS181859461 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS181860632 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS1818624667 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS181863443 RLBP1 Health Risk Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy
RS181865675 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1818665697 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS1818691758 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818692381 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818693456 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818695432 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818703974 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1818705322 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818740811 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818749427 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1818749779 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1818768251 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1818768394 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181882616 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS1818826951 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1818830393 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181884470 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS181889379 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS181889432 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS181890907 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis
RS181892217 DTHD1 Health Risk Conflicting classifications of pathogenicity —
RS181892828 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1818930617 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1818935081 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, FGFR1-related disorder
RS181894008 WNT5A Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS1818974494 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, ANK1-related disorder
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