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
RS201240635 TG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201240745 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS201241191 FTL Health Risk Conflicting classifications of pathogenicity sporadic abdominal aortic aneurysm, Neuroferritinopathy
RS201241207 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS201241555 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS201241894 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS201241987 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS201242002 NIN Health Risk Conflicting classifications of pathogenicity —
RS201242338 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Inborn genetic diseases
RS201242396 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS201242590 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS201242759 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201242847 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS201243102 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS201244483 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS201244651 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS201244749 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS201244916 TTC12 Health Risk Pathogenic Ciliary dyskinesia, primary
RS201245117 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS201245525 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS201245932 PAH Health Risk Likely pathogenic Phenylketonuria, PAH-related disorder
RS201246173 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS201246193 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ciliary dyskinesia
RS201246214 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS201246466 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS201246528 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS201246660 OTOF Health Risk Conflicting classifications of pathogenicity —
RS201246713 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201246720 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS201247556 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, GALK1-related disorder
RS201247839 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS201249215 ACBD5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy with leukodystrophy, Retinal dystrophy with leukodystrophy
RS201249286 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS201249348 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS201249839 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS201249919 SKIC3 Health Risk Pathogenic —
RS201249963 POLE Health Risk Pathogenic —
RS201249971 LIPH Health Risk Pathogenic/Likely pathogenic Woolly hair, autosomal recessive 2
RS201249977 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS201250184 COL9A3 Health Risk Conflicting classifications of pathogenicity COL9A3-related disorder, COL9A3-related disorder
RS201250289 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS201250579 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201250825 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS201251064 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS201251213 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, ALOX12B-related disorder
RS201251295 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS201251394 DACT1 Health Risk Pathogenic Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
RS201251634 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS201251711 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz
RS201251790 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, BUB1B-related disorder
RS201251963 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS201252328 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS201252361 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201252364 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus
RS201252375 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201252505 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS201252553 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, DYNC2H1-related disorder
RS201252762 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS201252809 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201253200 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS201253231 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RTTN-related disorder
RS201253322 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS201253435 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, Cataract 36
RS201253546 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201253919 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS201254169 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS201254195 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS201254271 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS201254275 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS201254300 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS201254386 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS201254436 PIK3R1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 36 with lymphoproliferation, SHORT syndrome
RS201254466 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS201254691 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS201254782 KIAA1210 Health Risk Conflicting classifications of pathogenicity —
RS201255023 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS201255024 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, PKLR-related disorder
RS201255083 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS201255245 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS201255257 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS201255508 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS201255606 GCH1 Health Risk Pathogenic —
RS201255617 SCN8A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS201256077 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS201256460 FZD4 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS201256664 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201256776 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS201256839 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS201257063 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS201257304 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS201257328 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201257588 TBC1D24 Health Risk Pathogenic DOORS syndrome, Developmental and epileptic encephalopathy
RS201257594 HPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201257644 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201257809 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS201258222 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS201258230 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS201258314 TREM2 Health Risk Conflicting classifications of pathogenicity TREM2-related disorder, Colorectal cancer
RS201258424 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS201258663 TREM2 Health Risk Pathogenic/Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
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