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
RS760615743 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 88, Occult macular dystrophy
RS760616076 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS760618394 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS760618916 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS760619105 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS760619442 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS760619900 NPHP1 Health Risk Likely pathogenic —
RS760621534 RAD50 Health Risk Conflicting classifications of pathogenicity Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome
RS760622076 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760622082 TJP2 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial 1
RS760622693 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760623071 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS760623510 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS760623978 LRP2 Health Risk Pathogenic —
RS760625230 GANAB Health Risk Pathogenic —
RS760625258 TTN Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS760625298 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS760625340 SC5D Health Risk Conflicting classifications of pathogenicity Lathosterolosis, Lathosterolosis
RS760625882 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS760626067 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS760626912 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS760627822 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS760628050 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Infantile epileptic dyskinetic encephalopathy
RS760628227 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS760629248 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS760629324 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS760629540 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS760629688 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS760631068 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS760631912 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, WFS1-related disorder
RS760632047 IMPG1 Health Risk Pathogenic —
RS760633130 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS760633411 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Acute myeloid leukemia
RS760634973 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS760635077 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases
RS760635983 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, DYNC2H1-related disorder
RS760636660 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS760636704 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS760637052 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, INVS-related disorder
RS760638243 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS760638643 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS760638759 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS760638778 PRSS12 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 1
RS760639277 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS760640013 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS760640025 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS760640027 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS760640415 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS760640619 COL18A1 Health Risk Conflicting classifications of pathogenicity COL18A1-related disorder, COL18A1-related disorder
RS760640869 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS760640909 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS760641207 POLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS760642305 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS760643071 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS760643364 NME8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 6, Primary ciliary dyskinesia 6
RS760643994 FLG Health Risk Pathogenic —
RS760644002 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760647222 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS760647541 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS760647691 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS760647945 NDUFAF2 Health Risk Pathogenic —
RS760649238 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS760649717 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS760649828 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS760649979 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS760650165 RLBP1 Health Risk Pathogenic/Likely pathogenic RLBP1-related disorder, Newfoundland cone-rod dystrophy
RS760651701 SKIC3 Health Risk Likely pathogenic —
RS760652685 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS760653238 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS760654579 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS760654888 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS760654985 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS760657350 PLD1 Health Risk Pathogenic/Likely pathogenic Malignant tumor of esophagus, Malignant tumor of esophagus
RS760657368 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS760659950 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS760660470 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS760661724 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS760663026 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS760663398 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS760663674 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS760664233 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS760664460 PCNT Health Risk Likely pathogenic PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
RS760664998 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS760666036 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS760666570 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS760667279 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS760667639 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS760669036 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS760669267 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS760669928 C8B Health Risk Pathogenic —
RS760670114 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS760670294 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS760670617 SEC24D Health Risk Pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS760672791 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Inborn genetic diseases
RS760673242 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS760673520 DNHD1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS760674518 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS760676014 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS760676361 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS760676442 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
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