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
RS756839375 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS756839691 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, severe infantile form
RS756840095 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS756840415 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS756840607 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS756840659 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS756840753 GIPC3 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 15
RS756841034 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756842462 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS756843954 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS756844068 HOXD13 Health Risk Conflicting classifications of pathogenicity Brachydactyly type D, Syndactyly type 5
RS756845439 ACD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dyskeratosis congenita
RS756846388 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS756846639 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS756847009 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS756847080 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS756847750 RYR1 Health Risk Conflicting classifications of pathogenicity Centronuclear myopathy, Malignant hyperthermia
RS756848112 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS756848600 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS756848924 CLN3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Neuronal ceroid lipofuscinosis 3
RS756849358 LOX Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS756850637 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS756850884 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756851431 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756851981 IMPDH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756852655 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS756853299 MKS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 13, Joubert syndrome 28
RS756853672 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS756853742 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS756853895 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS756854513 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS756855066 TARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS756855460 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756855492 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS756855585 ABCA3 Health Risk Pathogenic/Likely pathogenic Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
RS75685607 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS756856188 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Nephronophthisis
RS756856544 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Leber congenital amaurosis 15
RS756856961 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS756857216 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS756858234 SPP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS756858649 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS756859037 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS756859126 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS756859244 TUBGCP6 Health Risk Pathogenic —
RS756859863 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS756859993 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS756859994 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS756860453 SI Health Risk Likely pathogenic —
RS756861229 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS756862725 DSG4 Health Risk Likely pathogenic —
RS756863324 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756863825 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS756864231 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS756864793 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS756865273 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS756865623 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS756865833 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS756866953 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS75686697 RET Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Multiple endocrine neoplasia
RS756867102 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS756868374 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS756868452 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS756868871 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS756868889 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS756869400 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS756869880 WFS1 Health Risk Uncertain significance/Uncertain risk allele Type 2 diabetes mellitus, Wolfram syndrome 1
RS756870293 RYR1 Health Risk Pathogenic RYR1-related disorder, Abnormality of the musculature
RS756871251 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756871628 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS756871980 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS756874468 UQCC2 Health Risk Conflicting classifications of pathogenicity —
RS756874525 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Netherton syndrome
RS756874724 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS756874949 SLC2A2 Health Risk Pathogenic/Likely pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS756874994 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS756876301 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger)
RS756877019 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9
RS756877451 DYM Health Risk Conflicting classifications of pathogenicity Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS756877794 COL27A1 Health Risk Conflicting classifications of pathogenicity Steel syndrome, Steel syndrome
RS756878418 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS756879546 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS756879840 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hemorrhage
RS756879923 ASPM Health Risk Conflicting classifications of pathogenicity ASPM-related disorder, ASPM-related disorder
RS756880457 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS756880678 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P
RS756880941 ERCC8 Health Risk Pathogenic/Likely pathogenic UV-sensitive syndrome 2, Cockayne syndrome type 1
RS756881285 ADA2 Health Risk Pathogenic Splenomegaly, Deficiency of adenosine deaminase 2
RS756881667 SFRP4 Health Risk Pathogenic —
RS756882582 FDXR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome
RS756883400 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS756883456 TRAPPC11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS756884829 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS756885337 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS756885471 CNGB1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS756886302 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS756886777 DNHD1 Health Risk Pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS756888773 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS756888841 INPP5E Health Risk Likely pathogenic Joubert syndrome, Inborn genetic diseases
RS756890722 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
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