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
RS1396707186 LAMC3 Health Risk Pathogenic —
RS139671268 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS139671810 SLC25A38 Health Risk Conflicting classifications of pathogenicity —
RS139673146 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS139673557 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS139674448 NDUFA9 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 26
RS139675596 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS139675642 RFXAP Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS1396762844 TONSL Health Risk Pathogenic —
RS1396766124 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS139676674 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS1396768987 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1396769996 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS139677898 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS139678787 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS1396789926 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS139679441 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS139679692 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS139679798 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1396804493 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS139680786 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS1396816886 ABCA4 Health Risk Pathogenic —
RS139681694 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1396817932 COL4A5 Health Risk Likely pathogenic —
RS139682740 TOP3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1396840386 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS139684349 MIPEP Health Risk Conflicting classifications of pathogenicity Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS1396843820 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1396851699 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS139685237 CSF2RB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139685563 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS139685583 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139686090 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS139686925 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS139687202 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis
RS139687237 TACO1 Health Risk Conflicting classifications of pathogenicity —
RS139687326 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1396878326 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS139688032 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1396885141 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS139688774 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS1396889047 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS1396898151 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS1396898734 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1396898872 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS139690983 TOR1AIP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS1396912668 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS139691540 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS139691722 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS139692347 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS139692564 KERA Health Risk Conflicting classifications of pathogenicity —
RS1396926041 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS139692779 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS139693694 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS139694386 JMJD7;JMJD7-PLA2G4B;LOC112272587 Health Risk Conflicting classifications of pathogenicity —
RS139695003 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS139695699 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1396957653 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1396963242 SLC4A11 Health Risk Conflicting classifications of pathogenicity —
RS139696516 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, LRP2-related disorder
RS139696600 TDRD7 Health Risk Conflicting classifications of pathogenicity TDRD7-related disorder, Inborn genetic diseases
RS139697290 THAP11 Health Risk Conflicting classifications of pathogenicity —
RS1396973081 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS139697646 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS139697733 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS139698110 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Conflicting classifications of pathogenicity Lucey-Driscoll syndrome, Gilbert syndrome
RS1396994210 LOXHD1 Health Risk Pathogenic —
RS1397006934 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS139701269 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS139701867 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1397027035 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS1397029418 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS1397030516 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS139703319 TRIP12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Clark-Baraitser syndrome
RS139703788 ELP1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy, Familial dysautonomia
RS139703919 MXRA5 Health Risk Conflicting classifications of pathogenicity —
RS1397045479 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, VPS13D-related disorder
RS139705205 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS139705387 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS139705992 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS139706467 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, Cataract 36
RS1397066983 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1397068742 HNRNPK Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS139707740 FGFR3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139708286 SPR Health Risk Conflicting classifications of pathogenicity Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS1397083296 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1397086223 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1397090015 KNL1 Health Risk Likely pathogenic —
RS1397090654 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS139709507 VPS33B Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS1397098803 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1397110438 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1397111065 LMX1B Health Risk Pathogenic —
RS139712739 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS139713073 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS139714761 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS139715157 UNC45B Health Risk Pathogenic Myopathy, Myofibrillar myopathy 11
RS1397152875 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1397154022 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS139716296 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, Intellectual disability
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