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
RS147866042 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS1478660606 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS147866347 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, Inborn genetic diseases
RS1478665723 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS147866831 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Colon adenocarcinoma
RS1478670202 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1478674823 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS147867570 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS1478676614 COL7A1 Health Risk Pathogenic —
RS147868583 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS147869493 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS1478695794 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS147869659 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Tip-toe gait
RS1478697086 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS147870358 ARHGAP24 Health Risk Conflicting classifications of pathogenicity ARHGAP24-related disorder, ARHGAP24-related disorder
RS147870520 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS147870525 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS147870733 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS147871230 RNF216 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS147871747 POMT2 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1478720065 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1478721850 POLH Health Risk Likely pathogenic —
RS1478723907 THAP1 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 6, Torsion dystonia 6
RS147872436 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS147873489 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Syndromic complex neurodevelopmental disorder
RS1478738690 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS147874812 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS1478750141 OTOG Health Risk Likely pathogenic —
RS1478754689 NBAS Health Risk Pathogenic See cases, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS147875659 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS147876220 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS147876332 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS147876778 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Abnormality of the eye
RS1478768927 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS1478769596 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS147877722 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS147878958 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Familial cancer of breast
RS147879224 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Inborn genetic diseases
RS147879266 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147879793 MYO18B Health Risk Conflicting classifications of pathogenicity MYO18B-related disorder, Inborn genetic diseases
RS1478799269 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS1478813051 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS147881961 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS147882179 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS147882199 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS147882304 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Retinitis pigmentosa
RS147882360 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS147882530 STAG1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 47
RS147882947 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS147882975 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS147883651 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS147883949 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS1478841179 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS147884766 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS147885521 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS147885808 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS147886342 ACAN Health Risk Conflicting classifications of pathogenicity —
RS147886850 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS147886860 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1478872904 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1478876274 MCIDAS Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147888089 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1478885494 COL17A1 Health Risk Pathogenic —
RS147889095 ITPKB Health Risk Conflicting classifications of pathogenicity Myeloproliferative neoplasm, unclassifiable
RS147889200 GLMN Health Risk Conflicting classifications of pathogenicity Glomuvenous malformation, Inborn genetic diseases
RS147889360 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1478905473 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS147890616 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS1478908449 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS147891371 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS147891461 GPR161 Health Risk Pathogenic Medulloblastoma, Medulloblastoma
RS1478915084 MYH7 Health Risk Likely pathogenic —
RS147891898 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS147892497 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Inborn genetic diseases
RS1478938317 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS1478946630 ECHS1 Health Risk Conflicting classifications of pathogenicity —
RS1478948010 ACTL9 Health Risk Pathogenic Spermatogenic failure 53, Spermatogenic failure 53
RS147895061 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C
RS147895770 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS147895945 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS147896150 OTX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Pituitary hormone deficiency
RS147896487 ASAH1 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, ASAH1-related sphingolipidosis
RS147896704 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS147896952 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS147897225 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS147898420 MYO5A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS147898623 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1478989689 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1478989829 ALOX12B Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS147899031 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS147899488 MERTK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 38
RS1479002757 LRP4 Health Risk Likely pathogenic Sclerosteosis 2, Congenital myasthenic syndrome 17
RS147901148 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS147901432 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Renal tubulopathies
RS147901502 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147901593 ANK1 Health Risk Pathogenic —
RS147901772 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1479027996 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS1479029169 KMT2E Health Risk Pathogenic/Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS147903234 SAMD9L Health Risk Conflicting classifications of pathogenicity Ataxia-pancytopenia syndrome, Spinocerebellar ataxia 49
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