SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS114234514 ERCC6 Health Risk Conflicting classifications of pathogenicity ERCC6-related disorder, ERCC6-related disorder
RS114234874 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS114237522 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS114248590 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS114250691 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 1, Joubert syndrome with renal defect
RS114255772 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS114269199 ACKR3 Health Risk Conflicting classifications of pathogenicity —
RS114269482 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Acute rhabdomyolysis
RS114271603 DHX37 Health Risk Conflicting classifications of pathogenicity —
RS114274497 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS114274965 LAMB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS114278376 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS114282214 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS114284669 COL6A3 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS114286628 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS114293092 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder
RS114303883 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS114305064 TG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TG-related disorder
RS114315130 PAX4 Health Risk Conflicting classifications of pathogenicity —
RS114320052 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS114320959 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS114322680 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS114322847 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS114322958 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS114333791 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS114338020 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS114341997 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS114342808 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS114344654 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114346379 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS114353144 KHK Health Risk Conflicting classifications of pathogenicity Essential fructosuria, Essential fructosuria
RS114354377 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS114357878 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1143623 IL1B Health Risk association Antisynthetase syndrome, Antisynthetase syndrome
RS114362384 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS1143627 IL1B Health Risk risk factor Gastric cancer susceptibility after h. pylori infection, Gastric cancer susceptibility after h. pylori infection
RS1143634 IL1B Health Risk Benign; Affects; association; other Antisynthetase syndrome, Endometriosis
RS114365673 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1143675 ITGA4 Health Risk Conflicting classifications of pathogenicity ITGA4-related disorder, ITGA4-related disorder
RS114368325 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS114371269 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS114379164 RPE65 Health Risk Pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS114385015 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS114387988 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS114389730 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114400765 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS114402169 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS114402678 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS114403790 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS114404740 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS114404835 ABCG8 Health Risk Conflicting classifications of pathogenicity ABCG8-related disorder, Cardiovascular phenotype
RS114405905 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS114406277 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS114417076 OTOG Health Risk Conflicting classifications of pathogenicity —
RS114419085 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS114420154 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS114425388 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, B3GLCT-related disorder
RS114426854 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis
RS114428177 NPHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish congenital nephrotic syndrome
RS114436500 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, TG-related disorder
RS114437564 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS114440198 GALM Health Risk Conflicting classifications of pathogenicity Galactosemia 4, GALM-related disorder
RS114440343 KANK1 Health Risk Conflicting classifications of pathogenicity KANK1-related disorder, KANK1-related disorder
RS114446781 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114447363 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS114451941 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRIO-related disorder
RS114453622 KRT9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS114458562 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS114463490 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS114468011 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS114473507 RDH5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Pigmentary retinal dystrophy
RS114473792 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS114477962 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS114479009 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS114484315 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS114490473 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS114492689 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, COL6A3-related disorder
RS114493458 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, Variegate porphyria
RS114498197 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS114501042 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114504060 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS114507258 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS114508982 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS114510541 WDR81 Health Risk Likely pathogenic —
RS114511558 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS114512007 EYS Health Risk Pathogenic —
RS114513239 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS114513294 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, SPTB-related disorder
RS114518437 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS114519296 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS114521946 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS114523965 DISP1 Health Risk Conflicting classifications of pathogenicity DISP1-related disorder, DISP1-related disorder
RS114527197 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Rabin-Pappas syndrome
RS114527791 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS114539802 SLA;TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS114544564 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS114545628 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS114549120 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS114551196 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS114557260 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
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