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
RS201478327 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS201478438 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201478764 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 1, Joubert syndrome with renal defect
RS201479097 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, 8 conditions
RS201479143 CHMP1A Health Risk Conflicting classifications of pathogenicity CHMP1A-related disorder, CHMP1A-related disorder
RS201479289 CHAT Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Familial infantile myasthenia
RS201479636 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201480339 COL9A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS201480340 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS201480537 CEP135 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201481219 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS201481224 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS201481646 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS201481698 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome
RS201482015 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201483312 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201483656 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201483724 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS201483866 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS201484140 ADAMTS17 Health Risk Pathogenic —
RS201484389 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS201484896 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS201485014 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS201485985 REPS1 Health Risk Conflicting classifications of pathogenicity —
RS201486083 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS201486221 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS201486440 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS201486498 BMP6 Health Risk risk factor Iron overload, susceptibility to
RS201486601 PDYN Health Risk Likely pathogenic Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS201486613 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS201486752 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS201486782 SGCA Health Risk Conflicting classifications of pathogenicity —
RS201486809 RIN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RIN2-related disorder
RS201486858 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS201487332 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, ZAP70-related disorder
RS201487376 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS201487421 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS201487604 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS201487753 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Inborn genetic diseases
RS201487919 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS201488441 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS201488687 FAT1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS201488879 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS201489069 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS201489289 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS201489348 ARL2BP Health Risk Pathogenic —
RS201489589 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS201489630 PQBP1 Health Risk Conflicting classifications of pathogenicity Renpenning syndrome, PQBP1-related disorder
RS201489661 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201489714 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS201489818 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201489928 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS201490017 CRYM Health Risk Conflicting classifications of pathogenicity —
RS201490050 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Left ventricular hypertrophy
RS201490454 PTH1R Health Risk Conflicting classifications of pathogenicity —
RS201490643 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Trigonocephaly 1
RS201490932 CFAP144 Health Risk Conflicting classifications of pathogenicity —
RS201490999 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS201491251 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS201491278 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Autosomal recessive nonsyndromic hearing loss 2
RS201491908 PKD1L3 Health Risk Conflicting classifications of pathogenicity —
RS201491948 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome type 1
RS201492213 ROBO4 Health Risk Conflicting classifications of pathogenicity Ascending tubular aorta aneurysm, Bicuspid aortic valve
RS201492706 CACNA1C Health Risk Conflicting classifications of pathogenicity Restrictive cardiomyopathy, Long QT syndrome
RS201492796 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS201492940 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS201493204 POP1 Health Risk Pathogenic —
RS201493373 BSCL2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS201493390 GLI3 Health Risk Conflicting classifications of pathogenicity Polydactyly, Greig cephalopolysyndactyly syndrome
RS201493851 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS201493928 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS201494121 MME Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS201494226 CD247 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 25, Immunodeficiency 25
RS201494304 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Microcephaly
RS201494403 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201494527 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, DCAF17-related disorder
RS201494574 BCAR1 Health Risk Conflicting classifications of pathogenicity —
RS201495091 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201495169 HMOX1 Health Risk Pathogenic —
RS201495280 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1
RS201495678 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS201496024 CUL3 Health Risk Pathogenic Pseudohypoaldosteronism type 2E, Neurodevelopmental disorder with or without autism or seizures
RS201496200 IL21R Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS201496204 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Frontotemporal dementia
RS201496617 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201497197 CEP89 Health Risk Conflicting classifications of pathogenicity —
RS201497300 ATP7B Health Risk Likely pathogenic Wilson disease, Epileptic encephalopathy
RS201497427 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS201497466 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201497504 PNP Health Risk Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS201497629 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS201497685 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS201497772 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS201497875 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS201498073 TMEM63A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201498350 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis
RS201498416 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS201498915 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS201499268 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS201499815 PHYH Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Phytanic acid storage disease
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