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
RS540121859 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS540122133 RBBP8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS540122589 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS540124349 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS540125422 DCTN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS540128845 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS540131206 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS540144059 MAK Health Risk Conflicting classifications of pathogenicity —
RS540149539 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrullinemia
RS540150447 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Autoinflammatory syndrome
RS540157623 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS540160949 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS540161344 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiovascular phenotype
RS540161688 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS540165156 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS540169523 ACO2 Health Risk Conflicting classifications of pathogenicity Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS540171235 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS540171862 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS540172506 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS540183174 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS540202480 WDR4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS540203276 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS540215492 GYS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS540217942 CDC45 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS540229057 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS540240407 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS540241474 SLC26A2 Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type II, Achondrogenesis
RS540251433 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS540255320 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS540264243 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS540266988 PGAM2 Health Risk Pathogenic Glycogen storage disease type X, Glycogen storage disease type X
RS540271067 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS540273429 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS540277176 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS540287433 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS540288743 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS540291444 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), MPV17-related disorder
RS540296465 ITGA2B Health Risk Conflicting classifications of pathogenicity Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS540296842 PAX1 Health Risk Pathogenic Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
RS540304535 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS540306699 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
RS540317305 BSND Health Risk Conflicting classifications of pathogenicity —
RS540331226 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive cerebellar ataxia
RS540341763 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS540345773 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS540351476 DES Health Risk Conflicting classifications of pathogenicity Neurogenic scapuloperoneal syndrome, Kaeser type
RS540351799 PTPRU Health Risk Likely pathogenic Short stature, Short stature
RS540361957 PIK3R1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 36 with lymphoproliferation, SHORT syndrome
RS540365866 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS540371915 LRTOMT Health Risk Conflicting classifications of pathogenicity —
RS540375168 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS540383420 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS540386120 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS540387719 NR0B2 Health Risk Conflicting classifications of pathogenicity APC-mutation negative familial colorectal cancer, Inherited obesity
RS540399320 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 30
RS540402926 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS540408227 DNAJC21 Health Risk Conflicting classifications of pathogenicity DNAJC21-related disorder, Inborn genetic diseases
RS540419799 COL9A1 Health Risk Conflicting classifications of pathogenicity COL9A1-related disorder, COL9A1-related disorder
RS540425024 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS540425352 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS540438938 ZFHX4 Health Risk Conflicting classifications of pathogenicity —
RS540443650 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS540445580 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS540447388 SON Health Risk Conflicting classifications of pathogenicity SON-related disorder, Inborn genetic diseases
RS540447841 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS540463510 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS540498342 PNPT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 70, Autosomal recessive nonsyndromic hearing loss 70
RS540525001 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS540525285 LPL Health Risk Conflicting classifications of pathogenicity LPL-related disorder, LPL-related disorder
RS540542570 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS540547127 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS540554122 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS540561511 SLC2A9-AS3 Health Risk Pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS540563766 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS540567272 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS540573303 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS540577876 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS540587683 PDGFRB Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS540593146 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS540625712 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS540632609 COG4 Health Risk Likely pathogenic COG4-congenital disorder of glycosylation, Hepatocellular carcinoma
RS540633944 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS540634120 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS540634835 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS540635787 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS540638287 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS540644856 UNC80 Health Risk Pathogenic —
RS540652583 MAB21L2 Health Risk Pathogenic Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
RS540655479 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS540667475 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS540697892 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS540704185 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS540704248 ITGA3 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 7
RS540705031 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS540709989 TAOK2 Health Risk Conflicting classifications of pathogenicity —
RS540715620 TMPRSS3 Health Risk Pathogenic —
RS540717794 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS540722823 SKIC3 Health Risk Pathogenic —
RS540745201 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS540750398 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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