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
RS753009349 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS753009673 SCN8A Health Risk Conflicting classifications of pathogenicity SCN8A-related disorder, Early-infantile DEE
RS753010997 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS753011298 DCX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lissencephaly
RS753011366 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS753012199 TPO Health Risk Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS753012872 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS753012964 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS753013993 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS753014293 SNX10 Health Risk Pathogenic —
RS753014919 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS753015353 MED23 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 18
RS75301590 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS753016038 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Benign familial hematuria
RS753016438 CRB2 Health Risk Conflicting classifications of pathogenicity CRB2-related disorder, Focal segmental glomerulosclerosis 9
RS753018522 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
RS753018563 TTLL5 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS753018650 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS753019478 CAPN1 Health Risk Pathogenic/Likely pathogenic —
RS753019751 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS753019951 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, PGM3-related disorder
RS753020197 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS753020574 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia 1
RS753021453 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS753021814 LCAT Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS753021890 TEK Health Risk Pathogenic Glaucoma 3, primary congenital
RS753022721 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS753022747 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS753023295 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS753024616 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753026831 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS753026898 MAP1B Health Risk Pathogenic Hearing loss, autosomal dominant 83
RS753027544 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS753028867 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, Jalili syndrome
RS753029079 ARL2BP Health Risk Pathogenic —
RS753029097 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS753029185 KRT5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753030033 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS753030842 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS753033333 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS753034498 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753034685 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753034799 PDZD7 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 57
RS753035763 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS753036084 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS753036396 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, familial spinal
RS753036492 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS753036829 TCF12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753036935 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, NOTCH1-related disorder
RS753037539 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS753039116 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS753039246 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pierson syndrome
RS753041189 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS753041231 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753041550 SLC45A2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
RS753042073 SPTA1 Health Risk Likely pathogenic —
RS753043164 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS753043959 DMP1 Health Risk Pathogenic —
RS753044214 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753047043 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS753047625 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS753047771 MYCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Feingold syndrome type 1
RS753048905 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS753049092 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS753049136 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS753049777 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753049782 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS753050033 CARD9 Health Risk Pathogenic/Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS753051547 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS753052874 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1BB
RS753053516 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS753054046 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS753055824 DNAJC19 Health Risk Likely pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS753057519 CARS1 Health Risk Pathogenic Microcephaly, developmental delay
RS753057666 TTLL5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS753059579 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753060457 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS753060675 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases
RS753060862 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753061670 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease
RS753061978 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS753062783 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753062989 OR52I2 Health Risk Conflicting classifications of pathogenicity —
RS753063086 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS753063150 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS753063313 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS753064228 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753067824 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS753067992 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS753069829 ROR2 Health Risk Likely pathogenic Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS753070041 HPS5 Health Risk Conflicting classifications of pathogenicity —
RS753070223 DDB2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS753070352 CHD5 Health Risk Pathogenic —
RS753070477 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS753070490 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS753071702 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS753072061 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, GFPT1-related disorder
RS753072306 TTN Health Risk Conflicting classifications of pathogenicity —
RS753072795 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS753073710 PTPN23 Health Risk Pathogenic —
« Prev 1 ... 3245 3246 3247 3248 3249 3250 3251 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →