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
RS752071055 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Connective tissue dysplasia
RS752071309 TET2 Health Risk Pathogenic —
RS752071569 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS752073942 KCNQ2 Health Risk Likely pathogenic —
RS752074255 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, SGCE-related disorder
RS752074481 DTNBP1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS752075131 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS752076094 FUS Health Risk Likely pathogenic —
RS752076372 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS75207686 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS752077073 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS752077571 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS752078094 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS752078357 DNAJB2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS752078407 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS752079977 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS752080248 POLH Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS752080701 TP63 Health Risk Pathogenic Premature ovarian insufficiency, Premature ovarian failure 21
RS752080876 FREM2 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS752081680 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS752081909 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS752082232 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS752082912 CNNM4 Health Risk Pathogenic —
RS752084128 ALMS1 Health Risk Pathogenic —
RS752084251 F9 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS752085688 TALDO1 Health Risk Likely pathogenic Deficiency of transaldolase, Deficiency of transaldolase
RS752086486 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752086581 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS752087954 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS752088869 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS752088918 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS752089136 SLC4A4 Health Risk Likely pathogenic SLC4A4-related disorder, SLC4A4-related disorder
RS752090052 OSTM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS752090395 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS752091023 EFEMP1 Health Risk Conflicting classifications of pathogenicity EFEMP1-related disorder, EFEMP1-related disorder
RS752091655 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS752093604 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752093696 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS752094174 VPS13D Health Risk Likely pathogenic Spinocerebellar atrophy, Spinocerebellar atrophy
RS752094219 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS752094504 RNU4ATAC;CLASP1;CLASP1-AS1 Health Risk Conflicting classifications of pathogenicity CLASP1-related disorder, RNU4ATAC-related disorder
RS752095452 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS752095723 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752096360 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS752097874 MAGEL2 Health Risk Pathogenic/Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS752098175 STAG3 Health Risk Likely pathogenic Premature ovarian failure 8, Premature ovarian failure 8
RS752098612 TLE6 Health Risk Likely pathogenic Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
RS752099132 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS752099208 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS752100031 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, LRP5-related disorder
RS752100894 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS752101551 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS752101663 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS752101829 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS752102959 ENAM Health Risk Pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local
RS752104014 ACSF3 Health Risk Likely pathogenic —
RS752104654 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS752104975 TNFRSF6B Health Risk Conflicting classifications of pathogenicity —
RS752104988 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS752105563 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS752106293 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752107643 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS752107739 TTN Health Risk Conflicting classifications of pathogenicity —
RS752108301 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS752108348 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS752109819 DYNC2I1 Health Risk Pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS752110126 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS75211071 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS752112582 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS752113614 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752114168 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS752114200 SPTA1 Health Risk Likely pathogenic Pyropoikilocytosis, hereditary
RS752114814 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS752114855 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS752115449 SPAG17 Health Risk Pathogenic Spermatogenic failure 55, Spermatogenic failure 55
RS752116341 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS752116461 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS752116741 CYP19A1 Health Risk Pathogenic —
RS752117651 MACF1 Health Risk Conflicting classifications of pathogenicity Skeletal dysplasia, Skeletal dysplasia
RS752118019 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752118948 SUGCT Health Risk Conflicting classifications of pathogenicity Glutaryl-CoA oxidase deficiency, Glutaryl-CoA oxidase deficiency
RS752119263 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS752119540 GPI Health Risk Likely pathogenic GPI-related disorder, GPI-related disorder
RS752120059 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS752120730 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS752121953 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS752122764 SETX Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Spinocerebellar ataxia
RS752123968 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS752124839 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS752125512 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
RS752126122 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS752126515 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS752127949 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS752129019 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS752129360 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS752129504 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752130196 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Cardiac arrhythmia
RS752130338 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS752131463 NAGLU Health Risk Pathogenic Inborn genetic diseases, Mucopolysaccharidosis
RS752131830 INPPL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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