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
RS1187796945 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS1187804477 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS1187805545 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease
RS1187807999 INSL3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1187814622 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1187832552 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1187839124 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinal dystrophy
RS1187844488 GABRA2 Health Risk Conflicting classifications of pathogenicity GABRA2-related disorder, GABRA2-related disorder
RS1187849857 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15
RS1187853717 SZT2 Health Risk Pathogenic —
RS1187861686 RAB33B Health Risk Pathogenic Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS1187871689 ADGRG1 Health Risk Likely pathogenic —
RS1187876547 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS1187887456 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1187922643 HYOU1 Health Risk Conflicting classifications of pathogenicity —
RS1187924642 PPA2 Health Risk Likely pathogenic Sudden cardiac failure, infantile
RS1187924885 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS1187943520 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1187948767 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS1187971271 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS11879768 MYBPC2 Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1187982748 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS1187991259 CERKL Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 26
RS1188006437 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1188013106 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1188022140 SRRM2 Health Risk Likely pathogenic SRRM2-related disorder, SRRM2-related disorder
RS1188025733 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1188035446 GBA2 Health Risk Pathogenic Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46
RS1188048436 ACO2 Health Risk Pathogenic/Likely pathogenic —
RS1188053375 DGUOK Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS1188058763 GALNT3 Health Risk Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS1188070167 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis
RS1188080726 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter disease type 4A
RS1188082371 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1188093917 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1188094714 TSC2 Health Risk Conflicting classifications of pathogenicity Lymphangiomyomatosis, Tuberous sclerosis 2
RS1188095865 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1188099847 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1188106799 TBCE Health Risk Likely pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive Kenny-Caffey syndrome
RS1188116333 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1188117543 BOD1 Health Risk Pathogenic —
RS1188156028 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1188175909 LCA5 Health Risk Pathogenic —
RS1188195580 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1188199694 FREM1 Health Risk Likely pathogenic —
RS1188206999 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Inborn genetic diseases
RS11882073 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1188227820 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1188230416 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1188233243 DMD Health Risk Conflicting classifications of pathogenicity Dystrophin deficiency, Becker muscular dystrophy
RS1188239387 NKX2-5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7
RS1188244229 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1188250699 DUOX2 Health Risk Pathogenic/Likely pathogenic —
RS1188257054 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1188265182 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1188265845 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1188281491 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 39
RS1188292999 PKD1 Health Risk Pathogenic —
RS1188297697 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1188300105 STEEP1 Health Risk Pathogenic Intellectual disability, X-linked 107
RS1188306380 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1188310172 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1188323449 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1188328539 ALMS1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1188352454 TMEM106B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1188358849 CRELD1 Health Risk Pathogenic Atrioventricular septal defect, susceptibility to
RS1188370836 DDX3X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1188399385 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1188417345 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1188426077 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1188435532 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS1188437940 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1188440303 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15
RS1188461028 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1188488324 TONSL Health Risk Pathogenic —
RS1188496776 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1188500920 CHMP1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1188506084 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS1188507108 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1188515677 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Age related macular degeneration 2
RS1188527089 SPTBN2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1188540819 LTBP3 Health Risk Pathogenic Geleophysic dysplasia 3, Geleophysic dysplasia 3
RS1188549864 DDX41 Health Risk Likely pathogenic —
RS1188555703 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1188556155 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS1188559992 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1188561568 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS1188561908 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome 17
RS1188569102 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1188581065 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1188584832 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS1188591008 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1188592346 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1188601783 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1188616455 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1188637368 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1188643869 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS1188649369 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1188654362 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1188663543 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
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