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
RS137964936 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS137965290 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS137965786 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS137966123 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS137966859 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1379672870 PRDX1 Health Risk Pathogenic METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
RS137967850 PDZD7 Health Risk Pathogenic —
RS1379683835 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1379690075 SLC38A8 Health Risk Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS137969290 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS137970656 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS137971071 TSPAN12 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1379711249 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS137971303 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1379717085 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS137972092 SCAPER Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCAPER-related disorder
RS137972270 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS137973298 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS137973321 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, NEBL-related disorder
RS137973334 LIPT1 Health Risk Conflicting classifications of pathogenicity Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency
RS137974114 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS137974322 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS137974620 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS137975476 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS137975784 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1379762772 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS137976282 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS137976808 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS1379770755 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS137977232 EMD Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, X-linked Emery-Dreifuss muscular dystrophy
RS137978070 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS137978109 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS137978566 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS137978657 ALAS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137979116 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS1379806132 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1379806424 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1379813032 IARS1 Health Risk Pathogenic —
RS137981370 NFRKB Health Risk Conflicting classifications of pathogenicity —
RS137982286 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS137982786 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS137982921 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Meckel syndrome
RS137983840 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS137985549 CDKN1B Health Risk Conflicting classifications of pathogenicity Primary hyperparathyroidism, Multiple endocrine neoplasia type 4
RS137986136 SNTA1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Long QT syndrome
RS137986257 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1379866260 TSEN54 Health Risk Pathogenic —
RS1379874365 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS137987698 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1379877908 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1379879241 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS137987935 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS137988059 UTP14C;ALG11 Health Risk Conflicting classifications of pathogenicity ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS1379880963 EOGT Health Risk Pathogenic Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
RS1379892630 SMARCD2 Health Risk Conflicting classifications of pathogenicity Premature ovarian insufficiency, Specific granule deficiency 2
RS137989964 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS137989992 TRMT10A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1379900827 ATP2A2 Health Risk Likely pathogenic —
RS1379908545 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Type 2 diabetes mellitus
RS137991779 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, NECTIN1-related disorder
RS1379919229 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS1379924767 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS137993153 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS137993172 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS137994522 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary cancer
RS137994680 POLRMT Health Risk Pathogenic Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS137995316 UQCRQ Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 4, UQCRQ-related disorder
RS1379956683 KIF7 Health Risk Pathogenic/Likely pathogenic Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS137995823 PLAA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1379963762 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS137997656 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS1379977343 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS137998687 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, CUBN-related disorder
RS1379989124 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, NPHP3-related disorder
RS137999403 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS1379999620 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS138000380 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1380005347 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS138000704 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS1380007907 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS138000896 BNC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138001307 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Meniere disease
RS138001923 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138002006 COL7A1 Health Risk Conflicting classifications of pathogenicity COL7A1-related disorder, COL7A1-related disorder
RS138002384 SLC26A3 Health Risk Pathogenic —
RS1380025163 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS138002558 PLOD3 Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Clear cell carcinoma of kidney
RS138002793 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase complex deficiency, Leigh syndrome
RS1380029891 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, FLCN-related disorder
RS138004478 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS138004735 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS138004884 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS138005153 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS138005301 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS138005323 TCF3 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 8b, autosomal recessive
RS1380057781 EIF2B4 Health Risk Pathogenic —
RS1380069219 RAB23 Health Risk Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome, Carpenter syndrome
RS1380071831 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS138007437 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138007561 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
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