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
RS200700386 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200701182 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200701337 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS200701567 KIF14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200701665 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS200701839 PAX3 Health Risk Conflicting classifications of pathogenicity Craniofacial-deafness-hand syndrome, Waardenburg syndrome
RS200701950 BDP1 Health Risk Conflicting classifications of pathogenicity —
RS200702071 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS200702266 USH1C Health Risk Likely pathogenic —
RS200702302 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS200702528 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS200702600 ASXL1 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Inborn genetic diseases
RS200702974 BMPR1B Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 3, Type A2 brachydactyly
RS200703100 HEPHL1 Health Risk Likely pathogenic —
RS200703101 APOE Health Risk Likely pathogenic Abnormal circulating lipid concentration, Abnormal circulating lipid concentration
RS200703204 CD96 Health Risk Conflicting classifications of pathogenicity C syndrome, C syndrome
RS200703321 SLC37A4 Health Risk Conflicting classifications of pathogenicity SLC37A4-related disorder, Glucose-6-phosphate transport defect
RS200703478 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, Inborn genetic diseases
RS200703968 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200704721 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Inborn genetic diseases
RS200704926 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS200704986 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200705000 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200705061 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy
RS200705222 CFAP57 Health Risk Conflicting classifications of pathogenicity —
RS200705273 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS200705442 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS200705564 CPAMD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200706192 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS200706450 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS200706568 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS200706696 ALS2 Health Risk Conflicting classifications of pathogenicity ALS2-related disorder, Amyotrophic lateral sclerosis type 2
RS200707391 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS200707453 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS200707468 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS200707549 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS200707592 FGD1 Health Risk Conflicting classifications of pathogenicity —
RS200707657 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS200707804 SKIC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200707924 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS200708134 HSF4 Health Risk Conflicting classifications of pathogenicity Cataract 5 multiple types, Inborn genetic diseases
RS200708197 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS200708257 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS200708403 ANO4 Health Risk Likely pathogenic Temporal lobe epilepsy, Temporal lobe epilepsy
RS200708414 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Hereditary hyperinsulinism
RS200708864 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS200708870 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS200709126 NANS Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS200709344 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200709345 LITAF Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS200709631 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200709879 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS200709948 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS200710024 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 1
RS200710076 OPTN Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS200710310 PTH1R Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
RS200710438 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS200710788 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, COL6A2-related disorder
RS200710798 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 12
RS200710887 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS200710899 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYOM1-related disorder
RS200711686 CERKL Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 26
RS200712113 NUP188 Health Risk Conflicting classifications of pathogenicity NUP188-related disorder, NUP188-related disorder
RS200712253 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS200712296 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS200712598 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS200712715 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS200712751 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS200712760 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS200712908 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS200713075 FTSJ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200713129 MYO6 Health Risk Conflicting classifications of pathogenicity MYO6-related disorder, Cervical cancer
RS200713354 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS200713451 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS200713724 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS200713879 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Myopathy
RS200713917 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS200714000 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS200714367 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200714434 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS200714599 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Pseudohypoaldosteronism
RS200714716 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS200714802 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS200714808 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS200715208 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS200715227 CATSPERT Health Risk Conflicting classifications of pathogenicity —
RS200715461 TMPRSS9 Health Risk Conflicting classifications of pathogenicity —
RS200715520 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200715586 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS200716018 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS200716254 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS200716582 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS200716930 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200717031 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS200717151 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS200717236 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS200717240 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS200717327 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis syndrome
RS200717463 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200717651 FCSK Health Risk Conflicting classifications of pathogenicity —
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