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
RS1485459176 WDR81 Health Risk Pathogenic —
RS148545931 RFWD3 Health Risk Conflicting classifications of pathogenicity RFWD3-related disorder, RFWD3-related disorder
RS1485460114 GFM1 Health Risk Pathogenic —
RS148546326 SLC26A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC26A5-related disorder
RS148547035 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS148547180 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS148547201 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS148548209 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS148548958 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1485492099 FMR1 Health Risk Conflicting classifications of pathogenicity —
RS148549222 TSEN2 Health Risk Conflicting classifications of pathogenicity —
RS1485492241 CHRNG Health Risk Pathogenic/Likely pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS148549519 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS148549746 TTN Health Risk Conflicting classifications of pathogenicity —
RS148549783 PKD1L1 Health Risk Conflicting classifications of pathogenicity PKD1L1-related disorder, Inborn genetic diseases
RS1485499271 TTN Health Risk Likely pathogenic —
RS148550678 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1485507172 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS148550755 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS148550774 LRP5 Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Ovarian serous cystadenocarcinoma
RS1485510803 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS148551147 CRB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis 8
RS1485527369 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS148552744 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS1485527551 TRPM1 Health Risk Pathogenic —
RS148552966 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS148553723 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS148554414 SH2D1A Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to SH2D1A deficiency, Autoinflammatory syndrome
RS1485556692 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS148555862 PDE6B Health Risk Pathogenic —
RS1485558944 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS148555948 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148556332 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS148557097 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Sclerosteosis 2
RS148557575 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS148557956 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1485580233 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS148558068 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS1485586275 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1485588385 PKD2 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS148559256 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1485613651 KMT2C Health Risk Pathogenic —
RS1485613887 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS148561616 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS148561632 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS148561729 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1485620194 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS148562107 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype
RS148562279 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS148562491 WASHC5 Health Risk Conflicting classifications of pathogenicity Ritscher-Schinzel syndrome 1, Ritscher-Schinzel syndrome 1
RS148562777 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1485628563 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS148562969 MTPAP Health Risk Conflicting classifications of pathogenicity —
RS148565559 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS148565623 REST Health Risk Conflicting classifications of pathogenicity —
RS148566141 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1485661864 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS148566767 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1485674839 ESPN Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS1485675090 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS148568105 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS148568494 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1485703744 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1485709375 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1485712667 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS148571328 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS148571335 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS1485714154 NTRK1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS148571717 CAPRIN1 Health Risk Pathogenic Neurodevelopmental disorder with language impairment, autism
RS1485718634 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS1485749468 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS148575027 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS148575778 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS148576543 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder
RS1485769153 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS148576979 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS1485778259 CAMTA1 Health Risk Likely pathogenic —
RS1485778712 ESRRB Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS148578333 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS148579179 CCDC141 Health Risk Conflicting classifications of pathogenicity —
RS148579886 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Intellectual disability
RS1485800441 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS148580718 MAGI2 Health Risk Conflicting classifications of pathogenicity MAGI2-related disorder, MAGI2-related disorder
RS148581002 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS148581726 ADAMTS3 Health Risk Conflicting classifications of pathogenicity ADAMTS3-related disorder, Inborn genetic diseases
RS148582008 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS148582147 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Atrial septal defect 3
RS148582250 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS148582754 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease type 1B, Maple syrup urine disease type 1B
RS148582995 SLC11A2 Health Risk Conflicting classifications of pathogenicity Microcytic anemia with liver iron overload, SLC11A2-related disorder
RS1485838680 PNPT1 Health Risk Pathogenic —
RS148584272 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS148586447 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1485885260 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS148589226 NFASC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148589243 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Familial thoracic aortic aneurysm and aortic dissection
RS148589426 NUP160 Health Risk Conflicting classifications of pathogenicity NUP160-related disorder, NUP160-related disorder
RS1485894376 CACNA2D2 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS148590996 IFIH1 Health Risk Likely pathogenic Aicardi Goutieres syndrome, Aicardi Goutieres syndrome
RS148591292 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
« Prev 1 ... 703 704 705 706 707 708 709 ... 4509 Next »

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

Get Started Free →