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
RS377721813 EIF2AK1 Health Risk Conflicting classifications of pathogenicity —
RS377721888 RFX6 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Monogenic diabetes
RS377722320 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS377722423 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377722465 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS377722824 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS377723386 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS377723772 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS377723973 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS377724112 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377724143 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS377724489 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS377725187 POMK Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS377725442 THAP1 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 6, Torsion dystonia 6
RS377725666 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS377726143 FKBP10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377726262 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS377726402 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Optic neuropathy
RS377727537 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS377728296 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS377729111 AP3B2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 48
RS377729736 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS377729741 DGAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377730376 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS377730553 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS377730576 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS377730779 SCN4B Health Risk Conflicting classifications of pathogenicity Long QT syndrome 10, Cardiovascular phenotype
RS377731205 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS377731576 TMC1 Health Risk Likely pathogenic —
RS377732929 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, EFHC1-related disorder
RS377732984 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS377734247 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, Inborn genetic diseases
RS377734587 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS377734748 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS377734902 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS377735262 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS377736321 KCNJ13 Health Risk Conflicting classifications of pathogenicity —
RS377736535 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS377736828 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS377737248 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS377737331 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS377737395 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS377739292 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS377740590 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS377742193 CFHR3 Health Risk Conflicting classifications of pathogenicity —
RS377742483 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS377743610 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Factor H deficiency
RS377745062 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377745426 POLR2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS377745688 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS377745714 DDX41 Health Risk Pathogenic/Likely pathogenic Acute myeloid leukemia, DDX41-related hematologic malignancy predisposition syndrome
RS377746889 GNB4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
RS377747123 YEATS2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS377747403 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS377747439 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS377747563 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS377748152 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS377748878 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS377748897 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS377749094 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS377749481 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS377749878 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS377749969 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS377750405 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS377750953 CEACAM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377751310 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS377752443 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS377752596 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS377754606 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS377754692 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiomyopathy
RS377755503 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiofaciocutaneous syndrome 4
RS377756089 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS377756881 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS377757018 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS377757393 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS377757894 PGAP2 Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS377757978 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS377759037 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS377759571 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS377760437 COL9A1 Health Risk Likely pathogenic —
RS377761767 OTOGL Health Risk Likely pathogenic —
RS377762182 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS377762611 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS377763336 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS377763372 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS377763795 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS377764395 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS377767323 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS377767326 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS377767327 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377767328 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377767331 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377767332 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767333 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS377767334 SMAD4 Health Risk Pathogenic Juvenile polyposis of stomach, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS377767335 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377767336 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767341 SMAD4 Health Risk Pathogenic —
RS377767343 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767344 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
« Prev 1 ... 2786 2787 2788 2789 2790 2791 2792 ... 4509 Next »

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

Get Started Free →