SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS956551930 COL4A3;MFF-DT Health Risk Pathogenic/Likely pathogenic Alport syndrome, Autosomal dominant Alport syndrome
RS956554593 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS956588950 SPTBN1 Health Risk Likely pathogenic —
RS956654252 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS956657049 SLC39A7 Health Risk Likely pathogenic —
RS956666801 KCNQ4 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS956668146 PPOX Health Risk Pathogenic —
RS956678986 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS956812554 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS956812784 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS956832626 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS956839910 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS956852758 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS956854933 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS956885811 SLC27A5 Health Risk Conflicting classifications of pathogenicity —
RS956922949 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, SPG11-related disorder
RS956934022 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS956983036 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS956998936 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS957057964 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS957075099 TPO Health Risk Pathogenic —
RS957106428 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS957111625 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS957154857 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS957176669 ABCG8 Health Risk Pathogenic Sitosterolemia, Sitosterolemia 1
RS957203033 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS957219392 LAMC3 Health Risk Pathogenic —
RS957248353 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS957304581 INSR Health Risk Conflicting classifications of pathogenicity —
RS957312118 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS957313991 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS957344521 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS957383204 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS957394613 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS957419550 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS957430941 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS957431303 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS957448914 HCK Health Risk Conflicting classifications of pathogenicity —
RS957481378 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS957519261 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS957520585 KDM6B Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS957548078 CEP152 Health Risk Pathogenic/Likely pathogenic Seckel syndrome 5, Microcephaly 9
RS957559316 GPSM2 Health Risk Likely pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS957567268 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS957588958 CPLANE1 Health Risk Pathogenic —
RS957599864 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS957633719 EIF2B2 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS957637813 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B
RS957644 MGST3 Health Risk association Pulmonary disease, chronic obstructive
RS957683798 FA2H Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS957688002 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases
RS957747020 RAB39B Health Risk Conflicting classifications of pathogenicity —
RS957752399 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS957768814 TPRN Health Risk Conflicting classifications of pathogenicity —
RS957776783 RIN2 Health Risk Pathogenic —
RS957788324 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS957805754 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS957822115 PPP2R5D Health Risk Conflicting classifications of pathogenicity Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS957850339 MPV17 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS957902805 COL11A2 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS957902993 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS957930268 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS957981838 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS958014928 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS958023403 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS958027601 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS958055112 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS958073558 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS958074446 PEX3 Health Risk Likely pathogenic —
RS958086368 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS958089715 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS958169569 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS958171434 PDE6C Health Risk Pathogenic/Likely pathogenic Cone dystrophy 4, Cone dystrophy 4
RS958191819 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS958193703 EIF2B5 Health Risk Pathogenic Vanishing white matter disease, EIF2B5-related disorder
RS958213919 TSEN54 Health Risk Likely pathogenic —
RS958229850 C2CD3 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS958241794 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS958242201 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS958260291 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS958271752 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS958293767 FOXE3 Health Risk Pathogenic/Likely pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS958331584 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS958354298 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NOTCH3-related disorder
RS958388439 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS958406908 TECRL Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3
RS958442820 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS958476496 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS958489483 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8
RS958566673 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS958609406 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Myocardial infarction
RS958618412 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS958654789 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS958678153 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS958678700 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS958681660 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS958688368 KCNT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS958706615 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS958733748 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS958779954 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
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