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
RS369973293 MYO7A Health Risk Pathogenic —
RS369973540 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Retinal dystrophy
RS369973592 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS369973630 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS369973784 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IIIa, Glycogen storage disease IIIb
RS369973804 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS369973885 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS369974258 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369974414 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS369974578 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369975121 KLHL7 Health Risk Likely pathogenic —
RS369977541 NPHP1 Health Risk Pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS369977771 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS369977822 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS369978695 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, See cases
RS369979083 GJB3 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
RS369979598 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369979669 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, de Barsy syndrome
RS369980078 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS369980987 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS369981313 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS369981986 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS369982130 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS369982479 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS369982706 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS369982920 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS369983077 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS369984436 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS369984449 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS369984540 ADAMTS18 Health Risk Pathogenic —
RS369984591 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS369985388 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS369985476 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS369985921 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS369986649 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS369987125 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS369988146 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS369990217 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS369991667 GANAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369991878 JAKMIP1 Health Risk Conflicting classifications of pathogenicity —
RS369991887 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS369992659 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369993264 C8B Health Risk Conflicting classifications of pathogenicity Type II complement component 8 deficiency, Inborn genetic diseases
RS369993428 RELN Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS369994629 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369995297 WNT10A Health Risk Conflicting classifications of pathogenicity Schöpf-Schulz-Passarge syndrome, Odonto-onycho-dermal dysplasia
RS369996114 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS369997431 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS369997614 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Retinal dystrophy
RS369998522 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS369998823 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS369999291 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS369999628 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, TBX3-related disorder
RS370000472 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS370000548 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS370000575 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS370000816 KDM5C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS370000978 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS370001506 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS370001763 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS370003608 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS370004325 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS370004550 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS370004702 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS370004918 PTDSS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370005717 DLL1 Health Risk Conflicting classifications of pathogenicity —
RS370006772 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS370007721 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS370007902 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, Inborn genetic diseases
RS370008311 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS370009373 NDUFS1 Health Risk Pathogenic/Likely pathogenic See cases, Mitochondrial complex I deficiency
RS370009707 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS370009920 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS370011798 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, TRNT1-related disorder
RS370012973 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Rubinstein-Taybi syndrome
RS370015375 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Retinal dystrophy
RS370015676 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS370016334 GCK Health Risk Uncertain significance/Uncertain risk allele Hyperinsulinism due to glucokinase deficiency, Maturity-onset diabetes of the young type 2
RS370016934 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS370017666 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS370018000 FRAS1 Health Risk Conflicting classifications of pathogenicity Congenital anomaly of kidney and urinary tract, Fraser syndrome 1
RS370018159 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS370018440 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS370018943 BLOC1S3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hermansky-Pudlak syndrome 8
RS370019023 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS370020051 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS370020280 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS370020334 HYDIN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370022675 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS370023134 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS370023636 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Short QT syndrome type 2
RS370024536 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS370024579 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinitis pigmentosa 74
RS370025125 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370025626 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS370026245 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS370026529 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS370026879 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS370028079 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS370028534 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
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