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
RS200262506 PIK3C2A Health Risk Pathogenic —
RS200262598 RIPOR2 Health Risk Conflicting classifications of pathogenicity —
RS200262654 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS200263031 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS200263603 PORCN Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS200263669 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS200263975 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS200263979 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS200264100 ATP13A3 Health Risk Conflicting classifications of pathogenicity —
RS200264107 SCN2B Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS200264343 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS200264387 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS200264407 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS200264565 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS200264649 PLA2G4A Health Risk Conflicting classifications of pathogenicity —
RS200264819 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 15
RS200265134 SERPINH1 Health Risk Conflicting classifications of pathogenicity —
RS200265333 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS200265692 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS200265725 IFT81 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200265913 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS200266424 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS200266868 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS200267243 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4
RS200268089 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS200268506 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS200268523 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200268681 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS200268730 HS6ST1 Health Risk Conflicting classifications of pathogenicity —
RS200269019 F5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital factor V deficiency
RS200269358 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200269437 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS200269512 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS200269517 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, Inborn genetic diseases
RS200269526 OTOF Health Risk Conflicting classifications of pathogenicity —
RS200269703 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Autoinflammatory syndrome
RS200270156 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS200270315 LIFR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Stüve-Wiedemann syndrome 1
RS200270574 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS200271366 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 21
RS200271507 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS200271618 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS200271795 SKIC2 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS200271895 TENM4 Health Risk Conflicting classifications of pathogenicity TENM4-related disorder, TENM4-related disorder
RS200272339 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS200272467 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200272494 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS200272787 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS200272840 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200272953 AKT2 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
RS200273207 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS200273438 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS200273554 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, Autoinflammatory syndrome
RS200273673 RRM2B Health Risk Conflicting classifications of pathogenicity RRM2B-related mitochondrial disease, RRM2B-related mitochondrial disease
RS200273802 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200274020 PLD3 Health Risk Conflicting classifications of pathogenicity —
RS200274242 TSEN34 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS200274258 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16
RS200274360 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS200274404 KRT83 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix
RS200275281 DLL3 Health Risk Pathogenic Hemivertebrae, Rib fusion
RS200276021 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, SLC5A1-related disorder
RS200276195 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS200276333 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS200276550 AP4B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 47
RS200276831 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS200276882 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS200277127 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS200277155 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS200277422 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS200277460 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS200277476 BEST1;FTH1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive bestrophinopathy, Retinal dystrophy
RS200277615 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS200277996 SNX14 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS200278015 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS200278059 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS200278288 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS200278368 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS200278701 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS200278873 ATG4D Health Risk Conflicting classifications of pathogenicity ASHER, Neurodevelopmental disorder
RS200278984 ALDOA Health Risk Conflicting classifications of pathogenicity HNSHA due to aldolase A deficiency, ALDOA-related disorder
RS200279483 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS200279710 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS200279736 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS200279871 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS200279968 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS200280289 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS200280309 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS200280538 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS200280742 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Inborn genetic diseases
RS200281277 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS200281698 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS200281735 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS200282192 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200282443 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Congenital anomaly of kidney and urinary tract
RS200282568 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS200282837 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS200282898 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Hereditary spastic paraplegia
RS200282964 SLC10A1 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial
RS200283001 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
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