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
RS145947380 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS145948022 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1459480763 AIP Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145948285 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS1459484455 CNGA3 Health Risk Pathogenic —
RS145948549 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS145948620 CRB2 Health Risk Conflicting classifications of pathogenicity —
RS1459489540 CCN6 Health Risk Likely pathogenic —
RS145949718 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS145950999 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS1459518095 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1459520904 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1459522532 RPE65 Health Risk Likely pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS1459523811 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS145952475 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1459526637 C5 Health Risk Pathogenic —
RS145952917 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS145953016 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS145953185 AVPR2 Health Risk Conflicting classifications of pathogenicity —
RS1459535494 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1459539276 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS145953933 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS145954630 FHOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145955180 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS145955451 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS1459554830 COMP Health Risk Conflicting classifications of pathogenicity —
RS145955590 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 3C, Lethal multiple pterygium syndrome
RS145956175 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS145956521 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1459579613 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS145958193 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS1459583728 DRG1 Health Risk Likely pathogenic Tan-Almurshedi syndrome, Tan-Almurshedi syndrome
RS145959270 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS145959653 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS145959811 CEP135 Health Risk Conflicting classifications of pathogenicity CEP135-related disorder, CEP135-related disorder
RS145960256 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS145960296 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145960427 BICC1 Health Risk Conflicting classifications of pathogenicity Renal dysplasia, cystic
RS145960781 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS145961110 POU6F2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism, POU6F2-related disorder
RS145961131 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS1459612614 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS145962029 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS145962326 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, Inborn genetic diseases
RS145962719 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS145963511 SYT14 Health Risk Conflicting classifications of pathogenicity —
RS1459636120 CYP27B1 Health Risk Pathogenic —
RS145964337 SLC16A12 Health Risk Conflicting classifications of pathogenicity Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome
RS145964634 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS1459647807 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1459650575 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1459653241 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS145966037 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS145966505 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS145967477 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS145968118 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS145968424 NTRK2 Health Risk Conflicting classifications of pathogenicity NTRK2-related disorder, NTRK2-related disorder
RS145968865 PPP3CA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1459689539 C5 Health Risk Pathogenic —
RS145969667 C9 Health Risk Conflicting classifications of pathogenicity Complement component 9 deficiency, Age related macular degeneration 15
RS145969842 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, KIF1B-related disorder
RS145970248 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS145970332 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 13, Meckel-Gruber syndrome
RS145970949 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Hearing loss
RS145971170 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Mitchell syndrome
RS1459713589 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS145971446 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS1459714680 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS145972303 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-related disorder
RS145972313 UNC119 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Cone-rod dystrophy
RS145972324 SPTA1 Health Risk Conflicting classifications of pathogenicity SPTA1-related disorder, SPTA1-related disorder
RS1459732115 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS145973397 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS145973468 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS145973556 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS1459736027 BBS4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Bardet-Biedl syndrome
RS1459743428 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS145974361 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS145974930 KCNQ1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS145975787 CFH Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Basal laminar drusen
RS1459778601 LOX Health Risk Pathogenic —
RS145978406 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS1459785336 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS1459786357 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 2, Noonan syndrome 10
RS145979024 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS145979687 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1459799356 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS145980033 RUBCN Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15
RS1459803620 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS145980660 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS1459810136 SPG11 Health Risk Pathogenic/Likely pathogenic Abnormal central motor function, Charcot-Marie-Tooth disease axonal type 2X
RS1459816013 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS145982062 ESRRB Health Risk Conflicting classifications of pathogenicity ESRRB-related disorder, ESRRB-related disorder
RS1459829853 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS145983200 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lung cancer
RS145983286 KRT13 Health Risk Conflicting classifications of pathogenicity White sponge nevus 2, Inborn genetic diseases
RS1459840646 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS145985294 TRIO Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 63
RS145985318 EMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS145985595 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
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