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
RS761165660 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS761165865 TREX1 Health Risk Conflicting classifications of pathogenicity Systemic lupus erythematosus, Aicardi-Goutieres syndrome 1
RS761166747 COL9A3 Health Risk Pathogenic —
RS761167679 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS761167763 RDH12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 13
RS761168416 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS761168506 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS761168835 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, ATP1A2-related disorder
RS761169216 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Inborn genetic diseases
RS761169411 GPNMB Health Risk Pathogenic —
RS76116949 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis
RS761172007 TULP3 Health Risk Pathogenic Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
RS761172741 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761173025 POT1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS761173704 SCN4B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 10
RS761174114 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS761174120 CWF19L1 Health Risk Likely pathogenic —
RS761174573 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS761175955 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS761177629 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS761178502 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS761178973 KIR2DL3 Health Risk Conflicting classifications of pathogenicity —
RS761179696 KCNE3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 6, Cardiovascular phenotype
RS761179789 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS761180215 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS761180573 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761181064 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS761181797 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761182247 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS761182689 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS761182866 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS761183334 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS761183483 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS761183927 NPHP4 Health Risk Likely pathogenic Nephronophthisis 4, Nephronophthisis 4
RS761185148 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS761186402 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS761187116 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS761187818 FBN1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Marfan syndrome
RS761188772 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS761190322 MACF1 Health Risk Conflicting classifications of pathogenicity Spectraplakinopathy type I, Spectraplakinopathy type I
RS761190838 COL4A1 Health Risk Conflicting classifications of pathogenicity Microangiopathy and leukoencephalopathy, pontine
RS761191483 ITIH6 Health Risk Pathogenic Short stature, Short stature
RS761191576 FAM111A Health Risk Conflicting classifications of pathogenicity —
RS761193208 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS761193543 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS761193706 SLC12A1 Health Risk Pathogenic —
RS761194640 TPO Health Risk Likely pathogenic —
RS761195572 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS761195801 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS761196042 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS761196366 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS761196996 OPTN Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 12, Glaucoma 1
RS761197359 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS761197472 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS761197886 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS761199437 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS761199543 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS761200259 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS761200300 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS761200469 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS761200839 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS761201021 TTN Health Risk Conflicting classifications of pathogenicity —
RS761201299 NDUFA9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761202112 ATP8B1 Health Risk Conflicting classifications of pathogenicity ATP8B1-related disorder, ATP8B1-related disorder
RS761202760 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS761202967 IGF1 Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
RS761203337 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761203730 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS761203947 INSR Health Risk Likely pathogenic —
RS761204245 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS761204548 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS761205319 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS761205332 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS761205413 CORO1A Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS761206810 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS761208307 LARP7 Health Risk Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS761208847 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS761209241 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS761209432 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS761209435 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS761210577 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Pierpont syndrome
RS761211666 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS761211705 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS761212213 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS761212463 EPB41L1 Health Risk Conflicting classifications of pathogenicity —
RS761212672 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS761212770 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761213168 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS761213221 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS761213683 ANO10 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS761213794 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS761214266 NBN Health Risk Likely pathogenic —
RS761214441 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS761214775 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS761214886 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761215749 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS761216127 CYP1B1 Health Risk Pathogenic Glaucoma 3A, Glaucoma 3A
RS761216172 HR Health Risk Pathogenic —
RS761216494 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS761216892 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
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