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
RS2077714727 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077718812 ATP7A Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cutis laxa
RS2077724517 COL6A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS2077737059 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2077744287 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077751404 ATP7A Health Risk Likely pathogenic Cutis laxa, X-linked
RS2077759104 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077759485 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077760949 PRICKLE2 Health Risk Pathogenic See cases, See cases
RS2077761954 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS2077762322 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077772542 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077774072 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077774135 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2077781516 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2077798088 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077803067 LMAN2L Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 69
RS2077817384 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077819120 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077822326 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077824006 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077836463 COL6A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS2077837721 ATP7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cutis laxa
RS2077838704 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2077841802 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2077849329 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077852092 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2077853451 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077855956 SLC19A1 Health Risk Pathogenic Immunodeficiency 114, folate-responsive
RS2077857156 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial ovarian cancer
RS2077857551 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2077857559 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2077857607 IRF6 Health Risk Pathogenic —
RS2077857680 IRF6 Health Risk Likely pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS2077858180 ST3GAL3 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2077858751 COL6A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS2077859082 ATP7A Health Risk Pathogenic X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS2077863259 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS2077864704 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2077873846 IRF6 Health Risk Pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS2077874511 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2077884610 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS2077885583 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2077896094 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS2077901146 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS2077902309 IRF6 Health Risk Likely pathogenic Autosomal dominant popliteal pterygium syndrome, IRF6-related condition
RS2077902411 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS2077902428 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS2077939646 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS2077939791 IRF6 Health Risk Likely pathogenic Orofacial cleft 6, susceptibility to
RS2077939867 IRF6 Health Risk Likely pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS2077940243 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS2077945546 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2077946198 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS2077946427 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS2077947183 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2077948208 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077949826 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077951770 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077955754 IFT122 Health Risk Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2077957264 TRMU Health Risk Pathogenic —
RS2077957664 TRMU Health Risk Pathogenic —
RS2077967597 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS2077968562 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS2077968833 SDHB Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS2077977917 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma/paraganglioma syndrome 4
RS2077978220 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS2077978300 SDHB Health Risk Likely pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS2077978456 SDHB Health Risk Pathogenic/Likely pathogenic Renal neoplasm, Pheochromocytoma/paraganglioma syndrome 4
RS2077978513 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS2077985927 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2077989420 BRIP1 Health Risk Pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2077991700 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077993152 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2077993866 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2077994124 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2077995074 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2077999421 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS2077999823 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 4
RS2078004300 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS2078004315 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS2078004347 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS2078005090 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS2078005474 SDHB Health Risk Likely pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS2078022380 TRMU Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS2078027775 SALL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Duane-radial ray syndrome
RS2078030304 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS2078030343 ATP7A Health Risk Pathogenic —
RS2078031226 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2078032400 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2078047390 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2078061940 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2078077936 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS2078085499 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2078099260 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS2078100395 SDHB Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS2078107930 BRIP1 Health Risk Pathogenic/Likely pathogenic Malignant tumor of breast, Familial cancer of breast
RS2078111971 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial ovarian cancer
RS2078112057 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2078112240 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
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