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
RS139757997 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1397580172 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1397584716 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS139759238 B3GAT3 Health Risk Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS139759295 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1397593913 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS139759735 LAMB1 Health Risk Conflicting classifications of pathogenicity LAMB1-related disorder, LAMB1-related disorder
RS1397601481 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS139760270 PEX3 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS139762174 ANK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spherocytosis type 1
RS139763321 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS139763861 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, Inborn genetic diseases
RS139764209 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuroblastoma
RS1397649685 COQ2 Health Risk Likely pathogenic Coenzyme Q10 deficiency, primary
RS1397649778 PKD1 Health Risk Pathogenic —
RS139767111 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139767162 KCNV2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139767464 ACACB Health Risk Conflicting classifications of pathogenicity ACACB-related disorder, ACACB-related disorder
RS139767471 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS139767853 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS139768159 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS139768432 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139769668 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS1397702839 CYP4V2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS139770721 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS139770726 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS139770883 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS139771078 SCO1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS1397714772 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS139771618 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS1397719362 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS139772014 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS139772558 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS139773124 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TTC8-related disorder
RS139773221 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS139773438 FGFR3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 14 conditions
RS139775570 STRA6 Health Risk Conflicting classifications of pathogenicity Matthew-Wood syndrome, Matthew-Wood syndrome
RS139775895 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS139776370 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS139777286 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS139777470 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS1397778191 VWF Health Risk Likely pathogenic —
RS139779505 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS139779680 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, OTOF-related disorder
RS139780256 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder
RS139780924 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Inborn genetic diseases
RS139781017 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS139781067 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1397811125 TBX4 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS1397822810 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS1397834886 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1397842308 BRCA1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Hereditary breast ovarian cancer syndrome
RS139784416 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS139784916 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Chondrosarcoma
RS139785247 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS139785866 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS1397859218 SDHAF1 Health Risk Pathogenic Mitochondrial complex 2 deficiency, nuclear type 2
RS139785999 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Retinitis pigmentosa
RS139786391 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS139786814 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS139787163 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, EPHA2-related disorder
RS139787271 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS139787408 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS139787413 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS139787582 NPHP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome with renal defect, Nephronophthisis
RS1397883643 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1397886023 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS139788610 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS139789100 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS139789997 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1397900640 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS139790668 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS139790943 RET Health Risk Conflicting classifications of pathogenicity Aganglionic megacolon, Multiple endocrine neoplasia
RS139791147 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MPDZ-related disorder
RS1397912387 IL1RAPL1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 21
RS139791325 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS139791767 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, Inborn genetic diseases
RS1397919778 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS139792723 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS139793542 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS1397941319 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS139794766 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1397948000 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS139795210 WDR81 Health Risk Conflicting classifications of pathogenicity WDR81-related disorder, WDR81-related disorder
RS139795235 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1397953530 HK1 Health Risk Conflicting classifications of pathogenicity —
RS139795577 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1397965282 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1397969096 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS139797100 TNK2 Health Risk Conflicting classifications of pathogenicity —
RS139797106 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS139797525 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS139797540 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS1397979744 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS139798464 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS139798654 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS139799237 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS139799938 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS139800035 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Acute myeloid leukemia
RS139800185 TNC Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 56, Autosomal dominant nonsyndromic hearing loss 56
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