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
RS756511637 MTPAP Health Risk Conflicting classifications of pathogenicity Spastic ataxia 4, Inborn genetic diseases
RS756511744 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756512551 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS756513117 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Inborn genetic diseases
RS756514375 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS756516114 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS756517331 SLC12A2 Health Risk Conflicting classifications of pathogenicity SLC12A2-related disorder, SLC12A2-related disorder
RS756518004 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS756518824 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756518915 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756519197 SCN1A Health Risk Conflicting classifications of pathogenicity See cases, Early-infantile DEE
RS756519825 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS756519999 HLA-DRB1 Health Risk Likely pathogenic Multiple sclerosis, susceptibility to
RS756520886 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756521764 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS756522093 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS756522171 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS756522409 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS756522673 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS756523292 GCNA Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS756523315 AARS2 Health Risk Pathogenic —
RS756524704 PCNT Health Risk Likely pathogenic —
RS756526036 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS75652750 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS756528378 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS756529333 ABCB11 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder
RS756529985 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
RS756530281 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS756530648 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS756532455 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS756532676 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS756534000 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS756534222 NONO Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 34, Intellectual disability
RS756534747 ALG12 Health Risk Likely pathogenic —
RS756535079 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Inborn genetic diseases
RS756535543 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS756535650 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome
RS756535975 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS756536921 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS756536922 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Charcot-Marie-Tooth disease
RS756537437 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS756538708 CLCN1 Health Risk Pathogenic —
RS756538862 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS756539895 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS756539994 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS756541266 ENPP1 Health Risk Pathogenic Coronary sclerosis, medial
RS756541321 IFNAR1 Health Risk risk factor Immunodeficiency 106, susceptibility to viral infections
RS756541797 COCH Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 9, Hearing loss
RS756542477 PNPLA6 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS756542737 PRUNE1 Health Risk Likely pathogenic —
RS756542782 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS756543273 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Brittle cornea syndrome 1
RS756544059 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS756544270 TUBGCP6 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS756544334 REN Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis of genetic origin
RS756544748 KCNC1 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS756544884 GLUD2 Health Risk Conflicting classifications of pathogenicity —
RS756545123 PNLIP Health Risk Pathogenic —
RS756545808 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS756546984 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS75654767 OPTN Health Risk Conflicting classifications of pathogenicity Glaucoma 1, open angle
RS756550177 ROR2 Health Risk Likely pathogenic —
RS756550215 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS756550597 USP7 Health Risk Pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS756550702 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS756551154 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS756551252 IFT81 Health Risk Pathogenic —
RS756552559 PIGB Health Risk Pathogenic —
RS756552975 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756553428 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS756553633 PLOD1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS756555904 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS756555985 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS756556129 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS756556933 AP5Z1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS756557144 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Porokeratosis 3
RS756557668 ERF Health Risk Conflicting classifications of pathogenicity TWIST1-related craniosynostosis, Inborn genetic diseases
RS756557942 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS756559408 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS756560192 CALR3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 19
RS756560698 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Connective tissue disorder
RS756562276 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS756563857 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS756564767 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS756564881 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS756565236 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS756566938 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS756567847 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS756567967 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS756570102 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS756570347 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS756570931 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa
RS756571003 MYH2 Health Risk Pathogenic Myopathy, proximal
RS756571077 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS756571156 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS756571175 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS756571385 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS756572099 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS756572268 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS756572885 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
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