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
RS372348365 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS372348405 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS372348692 SMARCB1 Health Risk Conflicting classifications of pathogenicity SMARCB1-related schwannomatosis, Rhabdoid tumor predisposition syndrome 1
RS372348815 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS372348872 FYCO1 Health Risk Pathogenic FYCO1-related disorder, FYCO1-related disorder
RS372349042 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS372349942 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS372350131 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS372350188 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS372350326 FA2H Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Inborn genetic diseases
RS372350768 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary nonpolyposis colorectal neoplasms
RS372350814 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS372351233 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS372351800 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS372352774 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS372352945 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372353067 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS372354156 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS372354417 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Inborn genetic diseases
RS372354883 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS372355541 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS372355939 IFT122 Health Risk Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS372356069 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, See cases
RS372357778 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS372357820 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS372357954 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS372358310 NR1H4 Health Risk Conflicting classifications of pathogenicity NR1H4-related disorder, NR1H4-related disorder
RS372359421 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372359634 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS372359781 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS372360343 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS372360369 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372360787 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS372361501 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS372362031 COG4 Health Risk Conflicting classifications of pathogenicity COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS372362152 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS372362723 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372364561 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS372365287 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS372365378 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS372366481 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS372366760 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS372367275 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS372367313 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS372367879 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS372367989 TRNT1 Health Risk Pathogenic/Likely pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Developmental and epileptic encephalopathy
RS372368062 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS372368908 SMARCD1 Health Risk Pathogenic Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
RS372369061 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS372370653 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS372370665 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS372371276 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS372371435 ENG Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS372372169 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS372372509 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS372372558 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS372372851 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS372374492 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS372374523 BRWD3 Health Risk Conflicting classifications of pathogenicity —
RS372375423 PRMT7 Health Risk Pathogenic/Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Inborn genetic diseases
RS372376922 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS372378202 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS372378810 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Inborn genetic diseases
RS372378973 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS372379014 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS372379846 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS372380489 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372380880 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS372381365 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS372381770 MYH7 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS372381809 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS372381849 GEN1 Health Risk Conflicting classifications of pathogenicity GEN1-related disorder, GEN1-related disorder
RS372382315 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372382340 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS372382546 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372382608 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS372383821 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS372383822 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS372383829 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS372385738 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS372387518 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS372387693 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS372387718 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS372388555 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS372388579 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372388682 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372388997 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372389170 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS372389205 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS372390684 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS372392376 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372392424 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS372393122 DSP Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Cardiomyopathy
RS372393199 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS372393218 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS372394177 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS372395250 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, CHD3-related disorder
RS372395282 GDAP2 Health Risk Pathogenic —
RS372395294 SCN5A Health Risk Conflicting classifications of pathogenicity Familial isolated arrhythmogenic right ventricular dysplasia, Cardiac arrhythmia
RS372396071 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis 1
« Prev 1 ... 2692 2693 2694 2695 2696 2697 2698 ... 4509 Next »

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

Get Started Free →