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
RS142381713 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS142383077 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS142383658 OXCT1 Health Risk Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder
RS142383679 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS142383710 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome
RS1423840146 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1423841768 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1423851170 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS142385746 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS142386151 LAMB1 Health Risk Conflicting classifications of pathogenicity —
RS142386294 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS142386498 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142386992 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS1423869993 TMEM67 Health Risk Pathogenic RHYNS syndrome, RHYNS syndrome
RS142387263 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1423874145 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS142388112 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS142388231 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS1423885373 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS1423887740 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS142389357 DNHD1 Health Risk Conflicting classifications of pathogenicity —
RS142389942 PLCL1 Health Risk Conflicting classifications of pathogenicity —
RS142389949 DNAJC21 Health Risk Conflicting classifications of pathogenicity Bone marrow failure syndrome 3, Shwachman-Diamond syndrome 1
RS1423900007 SMARCD2 Health Risk Pathogenic —
RS1423903266 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS142390642 ENO3 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS1423914418 LIPA Health Risk Pathogenic/Likely pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS142391704 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome
RS142391957 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS142393072 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS142393662 NTRK2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 58
RS1423937629 PBX1 Health Risk Pathogenic/Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS142394051 MKKS Health Risk Pathogenic Inborn genetic diseases, Bardet-Biedl syndrome 6
RS1423941653 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS142394380 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS142395261 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS142395967 COLGALT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1423978863 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS142398161 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS1423995073 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS142399878 AAAS Health Risk Pathogenic —
RS1424006580 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS142400753 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1424010902 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1424014997 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS142402808 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS142402955 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS142403941 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS1424044273 TMEM38B Health Risk Likely pathogenic —
RS142404759 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, TGM1-related disorder
RS142404822 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS142405016 PARK7 Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS142405319 POU4F3 Health Risk Conflicting classifications of pathogenicity —
RS142405648 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS142405670 HYAL2 Health Risk Conflicting classifications of pathogenicity HYAL2-related disorder, Muggenthaler-Chowdhury-Chioza syndrome
RS142406504 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS142406714 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142407409 DUOX2 Health Risk Pathogenic —
RS142407818 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS142408719 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS142409090 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy
RS142409152 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS1424098674 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS142409885 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS142409945 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1424099914 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, IFT140-related disorder
RS142410021 GALNT8 Health Risk Conflicting classifications of pathogenicity —
RS142410803 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS142411659 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1424116749 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1424117367 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1424131846 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, RHO-related disorder
RS142413458 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS142413684 KRT9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142414432 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS142416150 MYOT Health Risk Conflicting classifications of pathogenicity Heart failure, Myofibrillar myopathy 3
RS1424161739 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS142416378 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS142416537 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS142416793 SLC7A14 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 68, Retinal dystrophy
RS1424171216 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1424182433 SMAD6 Health Risk Pathogenic/Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS142420345 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS142420360 KLKB1 Health Risk Likely pathogenic Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
RS1424203921 MCPH1 Health Risk Pathogenic —
RS142421644 FLG Health Risk Pathogenic/Likely pathogenic —
RS1424217272 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS142422341 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS142422402 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases
RS142422525 PNPLA6 Health Risk Likely pathogenic Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Hereditary spastic paraplegia 39
RS142422990 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1424230161 KIF7 Health Risk Likely pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1424242431 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS142424896 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS142425196 GFM2 Health Risk Conflicting classifications of pathogenicity GFM2-related disorder, GFM2-related disorder
RS142425754 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS142428017 BCL9 Health Risk Conflicting classifications of pathogenicity BCL9-related disorder, BCL9-related disorder
RS142428158 WFS1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS1424284351 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS142428867 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
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