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
RS763113534 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS763113675 EIF2AK3 Health Risk Pathogenic/Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS763114190 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS763114755 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS763115397 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS763115687 PIGM Health Risk Conflicting classifications of pathogenicity Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
RS763115697 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS763117746 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS763118688 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763119040 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS763119311 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS763119319 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS763119366 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS763122264 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS763122825 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS763122999 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS763123951 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS763126378 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS763126633 FILIP1 Health Risk Pathogenic Neuromuscular disorder, congenital
RS763126846 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS763127023 USH2A Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS763127279 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS763129394 C9 Health Risk Likely pathogenic —
RS763130672 ANK2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS763130915 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS763131793 CD46 Health Risk Pathogenic —
RS763132585 TCTN3 Health Risk Pathogenic/Likely pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS763132615 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS763132789 EFL1 Health Risk Likely pathogenic Shwachman-Diamond syndrome 2, Shwachman syndrome
RS763133096 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS763133592 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS763136492 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS763136509 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS763136667 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS763140298 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS763140976 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS763141634 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS763144679 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS763144937 SECISBP2 Health Risk Pathogenic Thyroid hormone metabolism, abnormal 1
RS763145238 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS763146296 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763146463 POMGNT1 Health Risk Pathogenic —
RS763146574 RYR1 Health Risk Likely pathogenic —
RS763146679 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS763147599 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS763149283 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS763151358 FANCE Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Fanconi anemia complementation group E
RS763151392 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS763153590 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS763154396 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS763154774 POLR3B Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS763155183 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763155375 UCP3 Health Risk Conflicting classifications of pathogenicity UCP3-related disorder, Obesity
RS763156837 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS763158250 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS763158627 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS763159512 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS763159520 ALPL Health Risk Likely pathogenic Inborn genetic diseases, Infantile hypophosphatasia
RS763160213 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS763160290 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS763161866 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS763161932 GNRHR Health Risk Pathogenic/Likely pathogenic —
RS763162233 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS763162379 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS763162492 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder
RS763162669 RFXAP Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS763162762 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS763162787 NHS Health Risk Conflicting classifications of pathogenicity See cases, Nance-Horan syndrome
RS763162812 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS763163879 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS763164530 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS763165014 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS763165541 GTPBP3 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 23, Inborn genetic diseases
RS763165545 GLI2 Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS763166039 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS763166498 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis
RS763166660 ABCA3 Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
RS763168158 FKBP14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type
RS76316834 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Inborn genetic diseases
RS763168997 GPR143 Health Risk Pathogenic —
RS763169900 ATL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 3A
RS763170220 EXPH5 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS763171566 SOX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS763174042 RPS20 Health Risk Conflicting classifications of pathogenicity —
RS763174055 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763175161 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS763176856 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763178268 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS763178849 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS763182554 ABCA12 Health Risk Pathogenic —
RS763183520 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS763183959 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS763183991 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS763184168 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763184444 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS763184652 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS763184657 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS763185312 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases
RS763185527 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS763186690 MTHFR Health Risk Pathogenic Spasticity, Bilateral tonic-clonic seizure
« Prev 1 ... 3407 3408 3409 3410 3411 3412 3413 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →