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
RS772748458 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS772748858 CERKL Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS772750557 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS772750589 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS772751581 OXA1L Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS772751654 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS772751994 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772752194 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS772752236 PCNT Health Risk Conflicting classifications of pathogenicity —
RS772754004 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS772754956 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS772756089 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS772757329 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS772757427 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS772757623 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS772757667 RNASEH2C Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 3, RNASEH2C-related disorder
RS772759631 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS772759859 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS772760681 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS772762833 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS772762943 SCN4B Health Risk Conflicting classifications of pathogenicity Long QT syndrome 10, Long QT syndrome 10
RS772762981 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772763082 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772763388 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS772764893 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS772764942 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS772765360 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS772765696 GLE1 Health Risk Pathogenic/Likely pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS772766573 MRPS22 Health Risk Conflicting classifications of pathogenicity Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
RS772766995 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS772767570 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS772767943 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS772768256 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS772768595 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS772768778 PGM1 Health Risk Pathogenic/Likely pathogenic PGM1-congenital disorder of glycosylation, PGM1-related disorder
RS772769638 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS772770633 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772771936 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS772772535 TUBGCP6 Health Risk Pathogenic —
RS772772727 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772772789 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS772773208 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS772773265 KIDINS220 Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Clear cell carcinoma of kidney
RS772774828 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS772775759 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS772776336 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772776468 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS772778568 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS772778835 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS772779601 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS772779997 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS772780166 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS772780483 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS772782141 WNT1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS772782309 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS772782439 P3H2 Health Risk Pathogenic —
RS772782772 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS772784324 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, CC2D2A-related disorder
RS772785079 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS772785163 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS772786482 HNF4A Health Risk Conflicting classifications of pathogenicity —
RS772786691 PRKN Health Risk Pathogenic/Likely pathogenic Young-onset Parkinson disease, Young-onset Parkinson disease
RS772786705 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS772787939 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS772788079 RNASEH2B Health Risk Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS772788410 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS772789166 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS772789325 HERC1 Health Risk Likely pathogenic Macrocephaly, dysmorphic facies
RS772789381 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS772791035 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS772791252 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS772793348 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS772794324 CRB1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS772795413 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS772795484 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS772795886 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772796741 VWF Health Risk Likely pathogenic von Willebrand disease type 2, Von Willebrand disease type 2A
RS772796883 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS772797192 SBDS Health Risk Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS772798486 MEOX1 Health Risk Pathogenic Klippel-Feil syndrome 2, autosomal recessive
RS772798706 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772799574 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS772800095 PITX2 Health Risk Pathogenic/Likely pathogenic Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1
RS772800519 TTN Health Risk Conflicting classifications of pathogenicity —
RS772800738 KCNQ2 Health Risk Likely pathogenic —
RS772801089 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS772802187 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS772802378 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS772802856 NODAL Health Risk Pathogenic Congenitally corrected transposition of the great arteries, Heterotaxy
RS772803115 NALCN Health Risk Conflicting classifications of pathogenicity NALCN-related disorder, NALCN-related disorder
RS772803200 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS772804181 RNF168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772804570 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia
RS772805677 TRNT1 Health Risk Pathogenic/Likely pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis
RS772806807 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS772808534 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS772808561 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS772809305 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS772809435 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS772810012 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
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