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
RS184812963 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS184814386 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS184815126 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1848167319 PRF1 Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS1848169364 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS1848171715 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis
RS1848174771 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder
RS1848176232 DENND5A Health Risk Pathogenic —
RS1848183403 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS1848204643 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS184820566 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS1848214400 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS1848218666 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS1848219856 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis
RS1848222357 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS184825524 PCNT Health Risk Pathogenic —
RS184828562 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS184829061 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1848291332 FAR1 Health Risk Pathogenic —
RS184830847 DICER1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1848315820 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1848316236 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1848316496 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, FAS-related disorder
RS1848319199 KCNQ1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1
RS1848319796 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1848322089 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1848324903 CYP2R1 Health Risk Pathogenic —
RS1848344878 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1848346228 KCNQ1 Health Risk Pathogenic Long QT syndrome, KCNQ1-related disorder
RS1848360153 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1848360692 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1848361555 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1848365236 KCNQ1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2
RS184841813 CACNA1B Health Risk Conflicting classifications of pathogenicity Dystonia 23, Dystonia 23
RS1848451807 FAR1 Health Risk Pathogenic —
RS184847335 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Connective tissue disorder
RS1848478518 PIK3C2A Health Risk Pathogenic/Likely pathogenic Oculocerebrodental syndrome, Oculocerebrodental syndrome
RS1848488567 FAS Health Risk Likely pathogenic —
RS1848491059 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS184853466 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1848538318 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome 1
RS1848558128 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1848574802 KCNQ1 Health Risk Pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS1848577150 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1848596931 CYP2R1 Health Risk Pathogenic —
RS1848609806 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome 1
RS1848612978 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1848613169 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Cardiovascular phenotype
RS1848613641 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1848626159 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS1848628661 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Cardiac arrhythmia
RS1848629484 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1848631108 KCNQ1 Health Risk Pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS1848631690 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1848632145 KCNQ1 Health Risk Pathogenic Cardiac arrhythmia, Cardiovascular phenotype
RS184863287 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1848633109 KCNQ1 Health Risk Likely pathogenic Cardiac arrhythmia, Long QT syndrome
RS184863735 GPSM2 Health Risk Conflicting classifications of pathogenicity GPSM2-related disorder, GPSM2-related disorder
RS184864675 ADAMTS13 Health Risk Conflicting classifications of pathogenicity —
RS184866544 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS1848668661 FAS Health Risk Likely pathogenic —
RS1848671126 FAS Health Risk Pathogenic/Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1848674892 FAS Health Risk Pathogenic —
RS1848675068 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS184868637 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS184868814 HAVCR2 Health Risk Conflicting classifications of pathogenicity Subcutaneous panniculitis-like T-cell lymphoma, HAVCR2-related disorder
RS184873330 ARL2 Health Risk Pathogenic Microcornea, rod-cone dystrophy
RS184878749 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS184879368 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS184879571 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS1848801744 ABCC8 Health Risk Likely pathogenic —
RS1848809864 ABCC8 Health Risk Conflicting classifications of pathogenicity —
RS184883937 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS1848840724 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS184886917 EPS8 Health Risk Conflicting classifications of pathogenicity —
RS184887106 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Neuronopathy
RS1848879955 CYP2R1 Health Risk Pathogenic Vitamin D hydroxylation-deficient rickets, type 1B
RS184888200 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS1848883206 CDKN1C Health Risk Likely pathogenic Monogenic short statue, IMAGe syndrome
RS1848884556 CDKN1C Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1848914894 CDKN1C Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848915004 CDKN1C Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848926281 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848930692 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848931980 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848940003 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS184895368 RIPK1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 57, Inborn genetic diseases
RS1848953740 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848955612 CDKN1C Health Risk Pathogenic —
RS1848955968 CDKN1C Health Risk Pathogenic —
RS1848960369 CDKN1C Health Risk Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848965153 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848966851 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848974871 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848977184 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848977725 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848978708 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1848979151 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1849030350 COL27A1 Health Risk Pathogenic —
RS1849042311 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
« Prev 1 ... 1285 1286 1287 1288 1289 1290 1291 ... 4509 Next »

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

Get Started Free →