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
RS140609193 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS140609531 PRDX3 Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive 32
RS140609636 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS1406097470 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1406098820 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS140609990 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS140610221 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS140610274 TNFAIP3 Health Risk Conflicting classifications of pathogenicity —
RS1406110455 PDE6A Health Risk Likely pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS140611214 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1406122283 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS1406126776 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS140613062 PLOD2 Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Ovarian serous cystadenocarcinoma
RS1406131499 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS140613217 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS140614229 LGI4 Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita 1, neurogenic
RS140614517 PITX2 Health Risk Conflicting classifications of pathogenicity Hypoplasia of the iris, PITX2-Related Eye Abnormalities
RS140614802 ADSS1 Health Risk Pathogenic/Likely pathogenic Myopathy, distal
RS140614903 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, Autosomal recessive nonsyndromic hearing loss 8
RS140614930 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS140618379 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS140618467 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Autoinflammatory syndrome
RS1406197729 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS1406208410 VPS13A Health Risk Pathogenic —
RS140621260 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS140621272 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Inborn genetic diseases
RS140621530 APOC3 Health Risk Conflicting classifications of pathogenicity Coronary heart disease, Apolipoprotein c-III deficiency
RS1406216361 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS140622968 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS140623300 CDC14A Health Risk Conflicting classifications of pathogenicity —
RS140623407 CA2 Health Risk Conflicting classifications of pathogenicity Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS140623763 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS140624114 ITGB6 Health Risk Likely pathogenic Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
RS140624746 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS140625913 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS140626 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS140626076 KMT2C Health Risk Conflicting classifications of pathogenicity Intellectual disability, Kleefstra syndrome 2
RS140626260 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS140626538 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1406268554 RSPH4A Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS140627 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS140627230 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, HEXB-related disorder
RS1406283407 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS140628579 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS140628687 ACACA Health Risk Conflicting classifications of pathogenicity ACACA-related disorder, ACACA-related disorder
RS1406289451 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS140629318 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS140629626 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1406298698 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS140629902 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, SNRNP200-related disorder
RS140630 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS140630401 IQCB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Senior-Loken syndrome 5
RS140630532 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS140630779 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS140630794 CHAF1B Health Risk Likely pathogenic Global developmental delay, Attention deficit hyperactivity disorder
RS140631323 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1406315227 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1406317092 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1406320425 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS1406324789 ABCA3 Health Risk Pathogenic/Likely pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS1406338491 PRKCG Health Risk Conflicting classifications of pathogenicity —
RS1406340228 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS140634178 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, PNPLA2-related disorder
RS140634215 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS140634799 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS1406348004 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS140636141 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
RS140636270 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS140636367 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Permanent neonatal diabetes mellitus
RS140636792 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder
RS140636870 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1406378335 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140638 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1406384540 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1406386099 PRPF31 Health Risk Pathogenic —
RS140638866 RET Health Risk Conflicting classifications of pathogenicity Congenital anomaly of kidney and urinary tract, Multiple endocrine neoplasia
RS1406392019 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS140639242 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Thrombus
RS140639463 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome 1
RS140639753 CD3E Health Risk Conflicting classifications of pathogenicity Immunodeficiency 18, Lung cancer
RS140639805 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
RS140640177 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Inborn genetic diseases
RS140640738 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS140641107 CFAP300 Health Risk Pathogenic —
RS140641762 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1406419764 APOC2 Health Risk Pathogenic Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency
RS140642213 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140642341 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS140642493 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS140643748 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS140644696 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma
RS140645910 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS140646380 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1406466561 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS140647 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1406470818 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS140647761 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS140648 FBN1 Health Risk Likely pathogenic Cardiovascular phenotype, Marfan syndrome
RS140648074 CRB1 Health Risk Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy, Leber congenital amaurosis 8
RS140648376 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, SPTB-related disorder
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