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
RS532947142 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS532959204 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS532961259 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS532963814 VWF Health Risk Conflicting classifications of pathogenicity VWF-related disorder, VWF-related disorder
RS532964069 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532964185 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Martsolf syndrome 2
RS532966530 TSEN54 Health Risk Pathogenic —
RS532967850 CUL3 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
RS532983875 FBN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital contractural arachnodactyly
RS532989312 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS532994978 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS533000838 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS533003321 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS533026166 SHOC1 Health Risk Pathogenic Spermatogenic failure 75, Spermatogenic failure 75
RS533027065 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS533032986 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS533033409 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1
RS533039765 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS533055438 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS533067936 NFIA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS533071750 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS533072680 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS533072942 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS533076307 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS533088955 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS533090572 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS533092441 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS533103813 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS533107164 RDX Health Risk Conflicting classifications of pathogenicity —
RS533110479 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS533121927 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS533127847 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS533142740 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, OBSL1-related disorder
RS533146473 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Inborn genetic diseases
RS533151885 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS533161794 COG4 Health Risk Conflicting classifications of pathogenicity COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS533171147 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases
RS533171314 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS533172128 TTN Health Risk Conflicting classifications of pathogenicity —
RS533192044 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa
RS533208785 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS533210843 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS533214351 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS533216340 SYNJ1 Health Risk Conflicting classifications of pathogenicity Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS533221512 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS533231370 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS533231493 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss
RS533231784 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS533233215 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS533236263 MASP1 Health Risk Pathogenic 3MC syndrome 1, 3MC syndrome 1
RS533237399 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS533240590 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Inborn genetic diseases
RS533244094 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS533247725 MAP2K2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiofaciocutaneous syndrome 4
RS533251927 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS533264615 JAK2 Health Risk Conflicting classifications of pathogenicity —
RS533273863 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS533275090 TAOK1 Health Risk Pathogenic TAOK1-related disorder, TAOK1-related disorder
RS533287773 RPS7 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS533290092 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS533297350 COL4A4 Health Risk Conflicting classifications of pathogenicity Hypertensive disorder, Hematuria
RS533306015 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS533310204 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS533310477 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS533311848 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS533321924 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Hyperkalemic periodic paralysis
RS533328133 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS533330664 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS533331740 NEXN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS533334893 ABCC2 Health Risk Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS533335580 F11 Health Risk Likely pathogenic Plasma factor XI deficiency, Hereditary factor XI deficiency disease
RS533349333 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS533349856 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS533353353 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS533361991 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS533369230 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Inborn genetic diseases
RS533384820 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS533389472 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS533393007 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS533403902 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS533405046 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase complex deficiency, Leigh syndrome
RS533410461 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS533419433 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS533422156 ABCA4 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy
RS533425606 CFAP74 Health Risk Pathogenic Ciliary dyskinesia, primary
RS533432746 LRP2 Health Risk Pathogenic —
RS533437573 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS533441671 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS533451404 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS533470019 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS533476140 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Cardiovascular phenotype
RS533487249 RNU4ATAC Health Risk Conflicting classifications of pathogenicity Lowry-Wood syndrome, RNU4ATAC spectrum disorder
RS533490795 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS533492555 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases
RS533502309 FBN1 Health Risk Conflicting classifications of pathogenicity Acromicric dysplasia, Geleophysic dysplasia
RS533526600 IL18BP Health Risk Conflicting classifications of pathogenicity —
RS533528646 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS533540262 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS533540279 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS533540496 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Stickler syndrome
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