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
RS535064774 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS535066596 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535068015 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 4B, autosomal recessive
RS535074635 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS535082142 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS535087290 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
RS535089650 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS535089924 TXNL4A Health Risk Pathogenic/Likely pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
RS535090775 PTF1A Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Pancreatic agenesis 2
RS535102352 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS535102558 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS535105766 GNA11 Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2
RS535109443 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS535110862 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS535111150 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS535115766 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS535118290 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS535121774 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS535127091 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS535128714 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS535129002 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535140505 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS535140939 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS535141079 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS535142482 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS535143891 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS535151633 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS535159793 ORC4 Health Risk Pathogenic Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
RS535161301 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS535174478 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS535176915 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS535186636 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS535191090 PDE6C Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, PDE6C-related disorder
RS5352 EDNRB Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS535202724 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
RS535205981 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS535206047 B3GAT3 Health Risk Pathogenic/Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS535219619 CBLB Health Risk Pathogenic Autoimmune disease, multisystem
RS535221986 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS535230112 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS535236784 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS535243555 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS535246705 VARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS535255845 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS535261113 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS535263649 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS535266558 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS535274413 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS535281449 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS535282333 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS535285068 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS535289422 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS535293574 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS535296791 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS535299273 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS535313247 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS535316621 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS535319996 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS535323883 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS535333070 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS535337741 TMC1 Health Risk Conflicting classifications of pathogenicity —
RS535343937 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS535344112 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS535344579 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS535345246 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS535347450 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS535350857 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS535351117 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS535355840 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS535358423 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
RS535363331 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS535366955 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS535367520 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS535372251 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS535382401 COA8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 17
RS535383459 STAMBP Health Risk Conflicting classifications of pathogenicity Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS535388759 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS535397245 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS535399366 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS535411352 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS535411418 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS535420083 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535427008 HGSNAT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinitis pigmentosa 73
RS535432218 CPOX Health Risk Conflicting classifications of pathogenicity Hereditary coproporphyria, CPOX-related disorder
RS535435928 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS535441567 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS535445817 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS535448005 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS535449626 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS535449776 ZFYVE27 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 33, Hereditary spastic paraplegia 33
RS535454043 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS535463729 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1A
RS535466651 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS535470039 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS535472885 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
RS535476833 SLC25A19 Health Risk Conflicting classifications of pathogenicity Amish lethal microcephaly, Amish lethal microcephaly
RS535477725 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type
RS535478389 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS535481040 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS535486098 PLA2G6 Health Risk Pathogenic/Likely pathogenic Iron accumulation in brain, Neurodegeneration with brain iron accumulation 2B
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