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
RS558259191 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS558259739 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS55826142 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS558265763 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Marshall syndrome
RS558267822 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS558269137 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Dermatitis
RS558274487 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS558276175 MAPK12 Health Risk Conflicting classifications of pathogenicity —
RS558281905 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS558282228 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS558285072 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS558287069 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS55828982 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS558291025 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS558291810 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS558295858 KCNV2 Health Risk Conflicting classifications of pathogenicity KCNV2-related disorder, KCNV2-related disorder
RS558302979 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS558304720 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS55830572 PDGFRB Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS558306648 DNM1L Health Risk Conflicting classifications of pathogenicity DNM1L-related disorder, DNM1L-related disorder
RS55830714 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS558308794 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS55830907 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, PRKN-related disorder
RS55831697 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS558318269 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS55832242 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS558323413 CIROZ Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS55832599 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS55833327 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS558336915 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Osteogenesis imperfecta
RS55833708 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Inborn genetic diseases
RS558341655 PIGN Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS558345043 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS558345996 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS558347312 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS55834942 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Insulin-resistant diabetes mellitus
RS55835607 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS558365010 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS558365108 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS558365811 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS55836779 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
RS558369303 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS55837610 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy
RS558379347 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS558383133 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS55838839 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS558397748 HIBCH Health Risk Pathogenic/Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS55840049 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS558403928 DNAAF1 Health Risk Conflicting classifications of pathogenicity —
RS558409444 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS558416040 PHOX2B Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Neuroblastoma
RS558416191 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS558421445 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS558424479 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS55842557 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS55842922 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3, Usher syndrome type 3
RS55842957 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS558429618 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS558436556 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS558440722 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS558440936 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS558451720 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS558452690 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS558452873 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS558458433 RUNX2 Health Risk Conflicting classifications of pathogenicity Cleidocranial dysostosis, Cleidocranial dysostosis
RS558458890 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS558463276 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS55847238 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Cardiovascular phenotype
RS55847618 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS55847708 DDB2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group E
RS558477960 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, BTD-related disorder
RS55848034 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS558481390 PANK2 Health Risk Pathogenic Hypoprebetalipoproteinemia, acanthocytosis
RS55848325 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS558488257 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Weill-Marchesani syndrome
RS558489382 EPS8L2 Health Risk Conflicting classifications of pathogenicity —
RS55849096 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS558493952 CELA2A Health Risk Likely pathogenic Coronary artery disorder, Hypertensive disorder
RS55849640 EFEMP1 Health Risk Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy, EFEMP1-related disorder
RS55849827 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS55850344 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS55850759 STK4 Health Risk Conflicting classifications of pathogenicity STK4-related disorder, Combined immunodeficiency due to STK4 deficiency
RS558510095 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Cardiovascular phenotype
RS558514709 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS55851803 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS55851925 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS558519810 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS558524280 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS55852466 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS55852620 ABCB1 Health Risk Conflicting classifications of pathogenicity Tramadol response, Tramadol response
RS55853041 PSMB8 Health Risk Conflicting classifications of pathogenicity Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome
RS55853138 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS55853199 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS55853245 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS558543425 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS558548172 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS55854959 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS55855125 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy
RS558551880 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS558556902 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
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