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
RS1338563418 APC2 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 74
RS1338600297 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1338600699 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS1338603862 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1338605788 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS1338615939 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1338631330 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS1338637317 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1338650106 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Fumarase deficiency
RS1338658857 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1338672803 PNKP Health Risk Likely pathogenic —
RS1338682682 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1338686840 OBSCN Health Risk Pathogenic —
RS1338707268 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Cardiomyopathy
RS1338737312 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS1338746267 OTOGL Health Risk Pathogenic —
RS1338756025 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS13388274 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS1338859307 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1338860420 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1338867680 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1338898111 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, Peters plus syndrome
RS1338914258 WT1 Health Risk Pathogenic Nephroblastoma, Nephroblastoma
RS1338921187 TERT Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1338927825 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance
RS1338930949 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1338953985 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS1338972046 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1338979266 SOX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases
RS1338982883 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1338994910 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1338996032 WDR19 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1338996432 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1339003853 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1339004050 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1339004837 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS1339009950 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS1339011741 SETX Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS1339016715 ALDH7A1 Health Risk Likely pathogenic —
RS1339030541 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1339037960 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1339043479 NFU1 Health Risk Conflicting classifications of pathogenicity —
RS1339046005 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1339060037 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1339062362 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1339067074 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1339069600 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1339088514 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1339089624 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1339097856 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1339126434 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS1339135039 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1339145374 P4HTM Health Risk Pathogenic —
RS1339157257 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1339171276 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS1339177368 LRP2 Health Risk Pathogenic —
RS1339214600 HEPACAM Health Risk Likely pathogenic —
RS1339238483 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1339249855 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1339256775 VCX3B Health Risk Conflicting classifications of pathogenicity —
RS1339283341 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1339290732 XPA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ovarian cancer
RS1339291105 POU4F3 Health Risk Likely pathogenic —
RS1339320666 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1339350914 TTN Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1339375099 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1339426358 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1339429545 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1339432710 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1339440799 SLC12A1 Health Risk Likely pathogenic —
RS1339444612 CFI Health Risk Pathogenic CFI-related disorder, CFI-related disorder
RS1339457069 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Inborn genetic diseases
RS1339474843 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1339486272 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1339489536 AGBL5 Health Risk Pathogenic —
RS1339542565 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1339547372 ACAD8 Health Risk Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS1339553173 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1339553782 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1339559716 DEAF1 Health Risk Pathogenic —
RS1339572177 ADAMTS10 Health Risk Likely pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS1339584247 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1339589345 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS13395942 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1339594475 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1339598338 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS1339608272 PPP2R5D Health Risk Likely pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS1339609890 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1339615185 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1339616347 WRN Health Risk Pathogenic 6 conditions, Werner syndrome
RS1339630793 SMARCD2 Health Risk Pathogenic —
RS1339631701 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1339640657 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1339644598 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1339651649 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1339655148 SOX9 Health Risk Pathogenic/Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1339661429 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1339685640 FLAD1 Health Risk Pathogenic —
RS1339688889 AAAS Health Risk Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1339703491 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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