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
RS776875782 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS776876941 CRIPAK;LOC126806945;UVSSA Health Risk Conflicting classifications of pathogenicity —
RS776877367 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS776877666 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS776878597 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS77687901 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS776879032 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS776880045 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis, Cone-rod dystrophy 13
RS776881635 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS776882059 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS776884086 MED17 Health Risk Pathogenic/Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS776885561 MTTP Health Risk Pathogenic —
RS776886354 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS776886395 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS776886714 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS776886962 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS776887278 EPOR Health Risk Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation, Inborn genetic diseases
RS77688767 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS776887800 PRX Health Risk Pathogenic —
RS776888712 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Cardiovascular phenotype
RS776889043 MACROD2 Health Risk Conflicting classifications of pathogenicity —
RS776889134 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS776889674 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS776889753 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776890776 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS776891268 NEXN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 20
RS776891768 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776892864 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS776893342 CD40 Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 3
RS776893978 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS776895767 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS776896038 CNGB3 Health Risk Pathogenic Achromatopsia 3, Abnormality of the eye
RS776896550 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS776897356 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS776897967 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS776897994 FSHR Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS776898103 LYZ Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS776898290 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776899398 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776901858 ARL3 Health Risk Pathogenic Joubert syndrome 35, Joubert syndrome 35
RS776902295 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS776903049 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS776905329 LAMB2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS776905403 LMX1A Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
RS776905824 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS776906387 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS776906733 VCAN Health Risk Conflicting classifications of pathogenicity —
RS776907084 UROD Health Risk Pathogenic —
RS776907522 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS776907825 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS776907931 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS776908038 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS776909228 HPDL Health Risk Likely pathogenic —
RS776909261 ADAMTSL4 Health Risk Likely pathogenic —
RS776909478 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776910365 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS776910485 ABCA4 Health Risk Pathogenic/Likely pathogenic —
RS776911505 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS776911847 TTN Health Risk Conflicting classifications of pathogenicity —
RS776912070 PDE6C Health Risk Pathogenic —
RS776912137 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS776912688 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS776912815 TMPRSS6 Health Risk Pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS776912915 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS776913133 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS776913146 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS776913277 BRAT1 Health Risk Pathogenic/Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS776914710 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS776915596 CTSB Health Risk Conflicting classifications of pathogenicity —
RS776915959 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS776916080 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS776917693 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS776918069 PDE6A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 43
RS776919202 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS776920005 KRT10 Health Risk Conflicting classifications of pathogenicity Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis
RS776920568 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, LRP5-related disorder
RS776920896 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Inborn genetic diseases
RS776921804 AP3B2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 48
RS776922262 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS776922546 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS776923037 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS776924834 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS776924838 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776924888 CEP152 Health Risk Pathogenic —
RS776926045 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS776926615 MCM3AP Health Risk Pathogenic —
RS776927125 MPDZ Health Risk Pathogenic —
RS776927709 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS776928002 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
RS776928848 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776930594 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS776930735 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS776930883 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS776932740 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776932788 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS776934642 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Atrial fibrillation
RS776935608 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS776936158 CP Health Risk Pathogenic/Likely pathogenic Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation
RS776936973 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS776937022 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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