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
RS200818740 IMPG2 Health Risk Conflicting classifications of pathogenicity —
RS200818935 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS200818962 SKIC2 Health Risk Pathogenic Trichohepatoenteric syndrome 2, SKIC2-related disorder
RS200819224 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS200819464 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type
RS200819563 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200819602 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS200819607 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS200819615 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group L, Fanconi anemia
RS200819771 SLC2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS200819891 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200820603 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS200820631 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS200820997 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS200821009 TECTA Health Risk Conflicting classifications of pathogenicity —
RS200821070 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200821102 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, TBX3-related disorder
RS200821440 TTBK2 Health Risk Conflicting classifications of pathogenicity —
RS200821646 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200821841 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS200822151 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS200822452 MYO3A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS200822573 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS200823300 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS200823610 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200823760 FLCN Health Risk Conflicting classifications of pathogenicity Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS200823913 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS200824018 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases
RS200824179 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Pick disease
RS200824314 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200824422 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS200824426 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS200824447 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS200824569 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200824585 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder
RS200824684 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200824831 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS200825022 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS200825023 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Centronuclear myopathy
RS200825036 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Smith-Magenis syndrome
RS200825417 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS200825430 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200826420 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200826424 RCBTB1 Health Risk Likely pathogenic Retinitis pigmentosa, RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
RS200826539 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Primary erythromelalgia
RS200827273 FGFR3 Health Risk Conflicting classifications of pathogenicity Squamous cell lung carcinoma, Squamous cell lung carcinoma
RS200827630 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200827637 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS200827721 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS200827913 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS200828005 FAT1 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Anophthalmia-microphthalmia syndrome
RS200828053 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS200828819 INTS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with cataracts, poor growth
RS200829155 CCZ1B Health Risk Conflicting classifications of pathogenicity —
RS200829209 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS200829297 COL9A1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Stickler syndrome
RS200829531 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200829661 AKR1D1 Health Risk Conflicting classifications of pathogenicity —
RS200829664 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS200829791 LMAN1 Health Risk Conflicting classifications of pathogenicity Factor V and factor VIII, combined deficiency of
RS200829846 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 4
RS200830026 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS200830156 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS200830423 IRF3 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS200830807 DSG2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS200830867 SPTA1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis, Hereditary spherocytosis type 3
RS200831060 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS200831069 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS200831095 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS200831250 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200831326 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS200831433 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200831675 LARP7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200831684 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS200831987 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS200832185 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS200832275 CFHR1 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS200832880 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS200832994 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS200833034 HES7 Health Risk Conflicting classifications of pathogenicity HES7-related disorder, HES7-related disorder
RS200833462 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS200833520 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS200833797 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Inborn genetic diseases
RS200834352 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS200834484 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS200834587 ROBO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ROBO2-related disorder
RS200834788 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS200835354 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200835396 ADGRA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS200835799 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS200835893 POLR2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200836148 CTU2 Health Risk Conflicting classifications of pathogenicity Microcephaly, facial dysmorphism
RS200836164 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200836253 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, Cataract 6 multiple types
RS200836471 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS200836986 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS200837051 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS200837077 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS200837433 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS200837944 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
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