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
RS143413607 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1434136429 TAT Health Risk Pathogenic Tyrosinemia type II, Tyrosinemia type II
RS143414212 TNFRSF11B Health Risk Conflicting classifications of pathogenicity Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS143414408 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1434151476 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS143416243 MID1 Health Risk Conflicting classifications of pathogenicity —
RS143416387 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1434169374 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 7
RS1434169817 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS143417087 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Multiple congenital anomalies/dysmorphic syndrome
RS1434174057 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1434174453 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS143417446 MGME1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11
RS143417821 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS143418190 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS143418731 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS143418950 SAG Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa
RS143418984 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Autosomal recessive congenital ichthyosis
RS1434191423 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS143419574 NPPA Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS143420538 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS1434208843 FOXP1 Health Risk Conflicting classifications of pathogenicity FOXP1-related disorder, FOXP1-related disorder
RS1434209233 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS1434209913 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS143421666 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143422606 DNHD1 Health Risk Conflicting classifications of pathogenicity DNHD1-related disorder, DNHD1-related disorder
RS1434232361 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS143423935 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1434245457 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS143424619 VAPB Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
RS1434246419 SLC2A10 Health Risk Likely pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS143424660 SLC17A4 Health Risk Conflicting classifications of pathogenicity —
RS1434250650 RNASET2 Health Risk Pathogenic Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS1434252108 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS143425492 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS1434257397 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS143425834 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS143426249 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS1434270332 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1434277339 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS143427811 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1B
RS143428106 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS143428827 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases
RS143429066 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS1434319423 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS143432118 AGTR1 Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS143432636 TTC28 Health Risk Conflicting classifications of pathogenicity —
RS143432711 TMPRSS15 Health Risk Likely pathogenic —
RS143433437 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS143433500 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1434356376 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1434357322 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1434359940 SLC26A4 Health Risk Pathogenic —
RS1434362838 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS143437991 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS1434384304 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1434385525 TNFRSF13B Health Risk Likely pathogenic TNFRSF13B-related disorder, TNFRSF13B-related disorder
RS143438559 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1434390821 WNT10A Health Risk Pathogenic/Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1434396338 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS143439959 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS143440206 ASTN1 Health Risk Conflicting classifications of pathogenicity —
RS1434415693 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS143441644 COQ4 Health Risk Pathogenic/Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia
RS1434431480 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS143443167 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS143443220 IFT27 Health Risk Conflicting classifications of pathogenicity IFT27-related disorder, Retinal dystrophy
RS143443833 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS143444046 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia
RS143444064 DACT1 Health Risk Conflicting classifications of pathogenicity DACT1-related disorder, DACT1-related disorder
RS1434442292 GLE1 Health Risk Pathogenic —
RS143444636 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1434449406 MTHFR Health Risk Pathogenic/Likely pathogenic Rare genetic intellectual disability, Neural tube defects
RS1434450419 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143445685 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS143445702 TSPAN12 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1434458616 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, STXBP2-related disorder
RS143446014 FBN1 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 1, isolated
RS143446358 KDM3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143446452 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, GFM1-related disorder
RS143446587 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS143447932 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS143448074 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS143448185 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS1434483881 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Cardiovascular phenotype
RS1434485676 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS143449407 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS1434495676 RP1 Health Risk Pathogenic —
RS143449578 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, VPS13A-related disorder
RS1434497201 SPR Health Risk Likely pathogenic —
RS143450222 SMPD4 Health Risk Conflicting classifications of pathogenicity —
RS143450797 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta
RS1434513582 BEST1 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS143451711 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143451766 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS143451969 ARSI Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, ARSI-related disorder
RS1434521185 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1434530468 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS143453173 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1434545235 FGFR2 Health Risk Pathogenic/Likely pathogenic FGFR2-related craniosynostosis, 11 conditions
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