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
RS759523751 MYO15A Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS759523949 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS759524388 HFE Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 1
RS759524596 NONO Health Risk Conflicting classifications of pathogenicity —
RS759524625 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS759525338 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS759528091 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS759528128 B4GALNT1 Health Risk Pathogenic Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26
RS759528809 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS759530635 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759530743 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS759531099 TFRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759531544 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS759531782 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS759531964 SHQ1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dystonia and seizures, Neurodevelopmental disorder with dystonia and seizures
RS759532318 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS759532553 LARS2 Health Risk Pathogenic LARS2-Related Disorders, LARS2-Related Disorders
RS759536357 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS759536629 YY1 Health Risk Pathogenic/Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS759536853 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS759537444 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS759537735 LIFR Health Risk Conflicting classifications of pathogenicity —
RS759537984 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS759538127 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Frontotemporal dementia
RS759540763 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy, Fuchs endothelial
RS759540917 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS759541634 RERE Health Risk Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS759541820 PGAP3 Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS759542218 DPAGT1 Health Risk Likely pathogenic —
RS759542721 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS759542954 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS759543703 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS759544193 F10 Health Risk Likely pathogenic —
RS759544282 LRRC51;LRTOMT Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS759545112 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS759545618 MAP3K7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759545669 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS759547196 LMF1 Health Risk Pathogenic —
RS759549058 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS759549373 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Intellectual disability
RS759550730 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS759551120 ERCC5 Health Risk Likely pathogenic See cases, Cerebrooculofacioskeletal syndrome 3
RS759551291 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS759551693 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS759552111 CAD Health Risk Pathogenic —
RS759555122 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS759555645 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS759555791 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS759556319 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS759557020 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS759557055 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS759559801 NPHS1 Health Risk Pathogenic —
RS759560622 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS759560822 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS759561079 STAG1 Health Risk Conflicting classifications of pathogenicity STAG1-related disorder, Congenital ocular coloboma
RS759561105 SNRPB Health Risk Likely pathogenic —
RS759561106 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS759561558 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS759561565 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS759561852 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759562639 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS759562755 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS759563092 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS759563506 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS759563967 PDE6A Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 43
RS759567393 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS759568612 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS759568760 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS759568939 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS759568976 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS759569482 VCX3B Health Risk Conflicting classifications of pathogenicity —
RS759572190 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Inborn genetic diseases
RS759573423 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS759573888 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS759573909 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard-Soulier syndrome
RS759574062 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS759574423 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS759576380 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS759576627 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759578199 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS759579036 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS759579169 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS759579368 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS759579664 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759579761 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS759579854 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS759580358 MICOS13 Health Risk Conflicting classifications of pathogenicity —
RS759580516 CPLANE1 Health Risk Pathogenic —
RS759580799 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS759580965 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS759581452 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS759581547 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS759581558 GAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Giant axonal neuropathy 1
RS759581954 WFS1 Health Risk Likely pathogenic —
RS759582306 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS759582696 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Epilepsy
RS759583931 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS759583948 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS759583976 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS759584117 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
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