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
RS771203234 SLC40A1 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 4, Hemochromatosis type 4
RS771203308 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS771203643 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS771205448 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771205573 FLCN Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS771205749 GYS2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, Glycogen storage disease
RS771205777 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS771205937 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Inborn genetic diseases
RS771206214 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771206317 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS771207375 ADA Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS771208171 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS771208403 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771209223 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS771209224 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS771209739 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS771210000 ARHGAP31 Health Risk Conflicting classifications of pathogenicity —
RS771210121 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS771210677 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771210838 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS771212010 CNOT3 Health Risk Conflicting classifications of pathogenicity CNOT3-related disorder, Intellectual developmental disorder with speech delay
RS771212750 KMT2D Health Risk Conflicting classifications of pathogenicity —
RS771212957 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Adult hypophosphatasia
RS771213140 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS771214256 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771214648 RPGR Health Risk Pathogenic/Likely pathogenic X-linked cone-rod dystrophy 1, Retinal dystrophy
RS771214714 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form
RS771214835 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS771215006 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS771215577 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS771215757 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, Variegate porphyria
RS771215852 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS771216289 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS771216742 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Inborn genetic diseases
RS771217333 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS771217469 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS771218061 COL18A1 Health Risk Pathogenic —
RS771218088 TTC8 Health Risk Likely pathogenic Bardet-Biedl syndrome, Retinitis pigmentosa 51
RS77121822 F7 Health Risk Conflicting classifications of pathogenicity Factor VII deficiency, Congenital factor VII deficiency
RS771218491 PGAP2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS77122016 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, SLC12A6-related disorder
RS771220162 TYRP1 Health Risk Pathogenic —
RS771221504 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS771222229 UBE3B Health Risk Pathogenic —
RS771222349 TRHR Health Risk Pathogenic Hypothyroidism, congenital
RS771222407 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS771222609 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771224190 TMEM138 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 16, Joubert syndrome 16
RS771224281 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS771225820 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771226563 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS771226686 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS771226774 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS771227940 SCN8A Health Risk Conflicting classifications of pathogenicity SCN8A-related disorder, Early-infantile DEE
RS771228855 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS771229488 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS771229879 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS771231175 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS771231484 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS771232166 BSND Health Risk Pathogenic Bartter disease type 4A, Bartter disease type 4A
RS771232346 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS771232437 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS771232897 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS771233542 CAD Health Risk Conflicting classifications of pathogenicity CAD-related disorder, Infantile epileptic dyskinetic encephalopathy
RS771234278 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS771234317 PDGFRB Health Risk Conflicting classifications of pathogenicity Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS771234779 DRAM2 Health Risk Pathogenic —
RS771234852 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS771236158 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS771237928 NOTCH2 Health Risk Pathogenic Monoclonal B-Cell Lymphocytosis, Hajdu-Cheney syndrome
RS771238114 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS771238740 DSC3 Health Risk Likely pathogenic Hereditary hypotrichosis with recurrent skin vesicles, Hereditary hypotrichosis with recurrent skin vesicles
RS771238795 CRIPT Health Risk Pathogenic Rothmund-Thomson syndrome type 3, Rothmund-Thomson syndrome type 3
RS771239031 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS771239116 SETD1A Health Risk Conflicting classifications of pathogenicity —
RS771239507 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771240057 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS771240150 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS771240219 KIAA0586 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS771240938 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS771241129 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS771241172 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS771242660 TNFAIP3 Health Risk Conflicting classifications of pathogenicity —
RS771243690 ADAMTSL4 Health Risk Pathogenic —
RS771244164 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771244760 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS771246451 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS771246748 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS771246986 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS771247610 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS771249524 TNFRSF11A Health Risk Conflicting classifications of pathogenicity TNFRSF11A-related disorder, TNFRSF11A-related disorder
RS771250864 C2CD3 Health Risk Pathogenic —
RS771251344 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Thyroid cancer
RS771251472 ZFYVE19 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS771251880 LMNB1 Health Risk Conflicting classifications of pathogenicity Adult-onset autosomal dominant demyelinating leukodystrophy, Inborn genetic diseases
RS771252680 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS771252983 GLMN Health Risk Conflicting classifications of pathogenicity Glomuvenous malformation, Vascular skin disorders
RS771253349 LEMD3 Health Risk Conflicting classifications of pathogenicity —
RS771254207 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS771254375 PDE11A Health Risk Pathogenic/Likely pathogenic Pigmented nodular adrenocortical disease, primary
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