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
RS1212157084 PLXNB2 Health Risk Pathogenic See cases, See cases
RS1212171741 MYO5B Health Risk Pathogenic/Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS1212204584 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Cardiovascular phenotype
RS1212213363 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1212228078 PNKP Health Risk Pathogenic PNKP-related disorder, PNKP-related disorder
RS1212229540 ATAD3A Health Risk Likely pathogenic —
RS1212229943 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1212231432 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1212235186 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1212259128 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1212282286 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1212294259 VPS13B Health Risk Pathogenic Inborn genetic diseases, Cohen syndrome
RS1212299137 CEP78 Health Risk Pathogenic —
RS1212299212 SLC12A3 Health Risk Pathogenic —
RS1212308982 OTOA Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS1212322787 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1212333772 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS12123397 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS1212374733 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1212378071 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1212383243 AFG2B Health Risk Likely pathogenic Neurodevelopmental disorder with hearing loss and spasticity, Neurodevelopmental disorder with hearing loss and spasticity
RS1212402265 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1212405193 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1212410709 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1212418813 ABCG5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia
RS1212420029 ABCA4 Health Risk Likely pathogenic —
RS1212443202 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
RS1212444447 HMGCL Health Risk Pathogenic Inborn genetic diseases, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1212452748 CTNNB1 Health Risk Likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1212466958 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS1212479289 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1212487109 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS1212509590 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1212517874 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1212517901 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS1212529394 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1212535211 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1212547389 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1212552985 WASHC4 Health Risk Pathogenic Intellectual disability, autosomal recessive 43
RS1212577306 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1212577459 PIK3R2 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1212599579 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS1212599937 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1212608410 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1212611138 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1212620164 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1212623980 GNE Health Risk Pathogenic GNE myopathy, GNE myopathy
RS1212633515 ACP4 Health Risk Likely pathogenic Amelogenesis imperfecta, type 1J
RS1212635015 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1212639017 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS1212640732 POLE Health Risk Pathogenic —
RS1212642361 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1212663056 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1212676320 SPINK5 Health Risk Pathogenic/Likely pathogenic Ichthyosis linearis circumflexa, Netherton syndrome
RS1212696529 SLF2 Health Risk Pathogenic Atelis syndrome 1, Atelis syndrome 1
RS1212700979 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1212701617 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS1212702104 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS1212705780 TUBB3 Health Risk Likely pathogenic —
RS1212706214 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS1212716750 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1212717189 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1212720647 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1212739356 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1212740618 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1212744203 FMO3 Health Risk Pathogenic —
RS1212768461 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1212773301 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1212780118 ASNS Health Risk Likely pathogenic —
RS1212790997 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1212793496 MRPS34 Health Risk Pathogenic/Likely pathogenic MRPS34-related disorder, Inborn genetic diseases
RS1212794587 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1212796323 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1212807954 RLBP1 Health Risk Pathogenic —
RS1212814399 NOTCH3 Health Risk Pathogenic —
RS1212837838 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS1212843827 RGS9 Health Risk Pathogenic —
RS1212877137 IHH Health Risk Conflicting classifications of pathogenicity Brachydactyly type A1A, Brachydactyly type A1A
RS1212883982 GLS Health Risk Pathogenic Global developmental delay, progressive ataxia
RS1212919060 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1212920276 LMNA Health Risk Uncertain significance/Uncertain risk allele Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS1212933615 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1212937518 HPS6 Health Risk Pathogenic —
RS1212949833 PANX1 Health Risk Pathogenic Oocyte maturation defect 7, Oocyte maturation defect 7
RS1212952550 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1212979817 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1212988348 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1212996409 TP53 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1212998897 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1212999117 LAMA3 Health Risk Pathogenic —
RS1213017578 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1213042460 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1213056420 FH Health Risk Conflicting classifications of pathogenicity —
RS1213060424 DLG3 Health Risk Pathogenic Inborn genetic diseases, DLG3-related disorder
RS1213073076 RARS2 Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1213106224 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1213117443 COL11A2 Health Risk Pathogenic —
RS1213124542 CEP290 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, CEP290-related disorder
RS1213132001 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1213135480 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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