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
RS1372045486 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1372052481 RYR2 Health Risk Pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1372091680 CWC27 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1372103295 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1372107115 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1372109444 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1372141763 RDX Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS1372180906 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1372204035 PCSK9 Health Risk Pathogenic Hypercholesterolemia, familial
RS1372204515 GCK Health Risk Conflicting classifications of pathogenicity —
RS1372213267 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1372321169 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1372329126 GPAA1 Health Risk Pathogenic —
RS1372330259 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS1372337348 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1372399805 LRTOMT Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS1372405222 TRIO Health Risk Conflicting classifications of pathogenicity —
RS1372420759 GCK Health Risk Pathogenic GCK-related disorder, GCK-related disorder
RS1372423132 BRCA2 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Hereditary cancer-predisposing syndrome
RS1372435657 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1372482877 DMXL2 Health Risk Pathogenic —
RS1372482894 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia type I
RS1372483405 CHD8 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS1372506599 ELMO2 Health Risk Likely pathogenic Primary intraosseous venous malformation, Primary intraosseous venous malformation
RS1372510250 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1372526467 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS1372534909 L1CAM Health Risk Conflicting classifications of pathogenicity See cases, Spastic paraplegia
RS1372552953 GLI3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pallister-Hall syndrome
RS1372580366 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS1372592100 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1372603694 TWIST1 Health Risk Pathogenic/Likely pathogenic Sweeney-Cox syndrome, Saethre-Chotzen syndrome
RS1372605067 DEPDC5 Health Risk Pathogenic Inborn genetic diseases, Familial focal epilepsy with variable foci
RS1372639847 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1372650242 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1372651519 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1372666497 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Ovarian cancer
RS1372668734 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1372680068 CERKL Health Risk Pathogenic —
RS1372708758 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1372709572 MYH2 Health Risk Pathogenic Myopathy, proximal
RS1372713010 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1372713940 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS1372719653 AFG2B Health Risk Pathogenic/Likely pathogenic SPATA5L1-associated disorder, Neurodevelopmental disorder with hearing loss and spasticity
RS1372720610 TMPRSS15 Health Risk Pathogenic —
RS1372739823 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1372741759 RUSC2 Health Risk Likely pathogenic —
RS1372753669 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS1372766642 SEC24D Health Risk Pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS1372770028 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1372774777 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1372782305 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1372787085 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1372793089 LCA5 Health Risk Pathogenic —
RS1372794201 ALG1 Health Risk Pathogenic/Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1372805291 PDGFB Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS1372822403 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS1372841592 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1372854875 IFT140 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome
RS1372862248 GPT2 Health Risk Pathogenic Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS1372864059 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1372867653 TRMU Health Risk Pathogenic —
RS1372872177 PLCE1 Health Risk Likely pathogenic —
RS1372900985 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1372903813 DOCK6 Health Risk Likely pathogenic —
RS1372906524 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS1372915935 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1372924173 LOX Health Risk Pathogenic/Likely pathogenic —
RS1372928198 POLE Health Risk Likely pathogenic —
RS1372968634 CDK4 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1372986456 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1373020489 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1373022366 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1373028227 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1373031209 HPS6 Health Risk Pathogenic —
RS1373040209 BRD4 Health Risk Pathogenic —
RS1373085553 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1373088315 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1373092362 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1373100329 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1373102999 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1373148885 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1373168392 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1373179700 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS1373182486 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome
RS1373230987 PNPLA1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS1373235194 MICU1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1373235682 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1373247548 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1373264140 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1373269458 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1373278959 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1373284153 FOXL2 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS1373296470 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiac arrhythmia
RS1373299848 COL2A1 Health Risk Pathogenic —
RS1373300155 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1373315673 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Inborn genetic diseases
RS1373336521 NTRK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1373354533 IL10RB Health Risk Pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS1373357744 DBR1 Health Risk Pathogenic Encephalitis, acute
RS1373365576 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
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