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
RS200283018 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 8
RS200283244 OTOF Health Risk Conflicting classifications of pathogenicity —
RS200283306 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS200283315 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS200283364 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS200283439 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200283718 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS200283734 FTCD Health Risk Conflicting classifications of pathogenicity Glutamate formiminotransferase deficiency, Intellectual disability
RS200283837 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Congenital aneurysm of ascending aorta
RS200283922 GCM2 Health Risk Pathogenic/Likely pathogenic Hyperparathyroidism 4, Hypoparathyroidism
RS200283964 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS200283987 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS200284308 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Inborn genetic diseases
RS200285003 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 3
RS200285455 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS200285624 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1
RS200285714 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS200286711 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS200286768 MTFMT Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 27
RS200286840 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS200287454 MBD5 Health Risk Pathogenic —
RS200287703 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200287925 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS200287952 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Kidney disorder
RS200288072 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS200288187 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS200288250 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS200288462 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, AGPAT2-related disorder
RS200288502 ILK Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS200288878 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, DSG4-related disorder
RS200289007 KMT2E Health Risk Conflicting classifications of pathogenicity O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS200289289 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS200289312 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200289321 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200289410 THSD7A Health Risk Conflicting classifications of pathogenicity —
RS200289457 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS200289472 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS200289497 USH2A Health Risk Pathogenic —
RS200289511 TMEM216 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 2
RS200289785 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS200290031 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS200290149 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS200290322 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS200290535 PROM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200290640 PIDD1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal recessive 75
RS200290721 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS200290813 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS200291056 CPAP Health Risk Conflicting classifications of pathogenicity —
RS200291237 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS200291280 PLPBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200291290 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS200291432 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS200291894 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Blood group
RS200292614 ERLIN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS200292673 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS200292757 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS200293302 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS200293444 SPTA1 Health Risk Conflicting classifications of pathogenicity SPTA1-related disorder, SPTA1-related disorder
RS200293454 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS200293827 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS200293982 DMXL1 Health Risk Conflicting classifications of pathogenicity —
RS200294006 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS200294137 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Familial cancer of breast
RS200294578 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
RS200294737 CD4 Health Risk Pathogenic Immunodeficiency 79, Immunodeficiency 79
RS200295020 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS200295038 RUSC2 Health Risk Conflicting classifications of pathogenicity —
RS200295094 CEACAM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200295318 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200295337 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS200295887 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS200295901 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS200296519 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS200296680 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Immunodeficiency 15a
RS200297010 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS200297060 ACADL Health Risk Conflicting classifications of pathogenicity Long chain acyl-CoA dehydrogenase deficiency, Long chain acyl-CoA dehydrogenase deficiency
RS200297215 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS200297370 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS200297676 CEACAM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CEACAM16-related disorder
RS200297914 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS200298261 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS200298843 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS200299096 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS200299299 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS200300254 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, MMACHC-related disorder
RS200300308 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200300407 LZTS1 Health Risk Conflicting classifications of pathogenicity —
RS200300612 EVC2 Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS200300629 RAG1 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS200300920 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS200301242 RRM2B Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RS200301524 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS200301970 ACACA Health Risk Conflicting classifications of pathogenicity ACACA-related disorder, ACACA-related disorder
RS200302125 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS200302290 RDH12 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis 13
RS200302954 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS200303151 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, VACTERL association
RS200303272 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS200303340 MYH7 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS200303625 GALNT12 Health Risk Conflicting classifications of pathogenicity —
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