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
RS369631109 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS369632588 HEATR5B Health Risk Likely pathogenic Neurological syndrome with pontocerebellar hypoplasia, Neurological syndrome with pontocerebellar hypoplasia
RS369632735 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS369633003 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, FAM161A-related disorder
RS369633360 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS369633742 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS369634007 TMEM87B Health Risk Likely pathogenic —
RS369634310 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS369635501 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS369636439 KANK2 Health Risk Conflicting classifications of pathogenicity —
RS369637181 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS369637193 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with hypotonia
RS369638371 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS369638886 CFB Health Risk Conflicting classifications of pathogenicity Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly
RS369639811 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS369641068 IL17RD Health Risk risk factor HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO
RS369641941 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, SLC3A1-related disorder
RS369642207 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS369642678 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS369643163 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS369643387 OXCT1 Health Risk Pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS369644531 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS369644548 TRPV5 Health Risk Pathogenic Renal Calcium Wasting Hypercalciuria, Renal Calcium Wasting Hypercalciuria
RS369645371 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS369645961 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Inborn genetic diseases
RS369646977 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369648085 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS369648324 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, CC2D2A-related disorder
RS369648462 TRDN Health Risk Conflicting classifications of pathogenicity —
RS369648544 CNTNAP1 Health Risk Conflicting classifications of pathogenicity CNTNAP1-related disorder, CNTNAP1-related disorder
RS369648601 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS369649419 ZNF142 Health Risk Pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS369650101 RSPH10B2 Health Risk Conflicting classifications of pathogenicity —
RS369650355 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS369650561 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS369650940 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS369651701 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS369652433 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS369652475 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS369653173 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS369653555 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Distal myopathy
RS369653594 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS369654090 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS369654108 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS369654422 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, Inborn genetic diseases
RS369654651 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS369654932 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS369655742 ABCC8 Health Risk Conflicting classifications of pathogenicity —
RS369656775 TELO2 Health Risk Conflicting classifications of pathogenicity TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
RS369657798 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Inborn genetic diseases
RS369657861 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria
RS369658526 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS369658574 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS369661042 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS369661561 DNAJB2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS369662857 PCARE Health Risk Conflicting classifications of pathogenicity —
RS369663551 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS369664123 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS369664394 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS369665716 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related myopathy, RYR1-related myopathy
RS369668612 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS369668866 FLNA Health Risk Conflicting classifications of pathogenicity FG syndrome 2, Oto-palato-digital syndrome
RS369669154 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, von Willebrand disease type 1
RS369669370 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, ODAD2-related disorder
RS369670665 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS369671177 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS369671309 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS369671334 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369671890 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS369672739 TBCD Health Risk Conflicting classifications of pathogenicity Thiel-Behnke corneal dystrophy, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS369673832 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS369675346 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Cortical dysplasia-focal epilepsy syndrome
RS369675421 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS369676162 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369677603 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS369677810 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS369678002 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS369678018 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369678506 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS369678636 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS369678672 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS369681244 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS369681389 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS369681753 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS369681854 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS369682093 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS369682197 LOXHD1 Health Risk Pathogenic —
RS369682316 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369682599 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS369682692 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS369682703 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS369683202 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS369684215 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS369684405 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS369684554 POLR3A Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome
RS369684624 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS369686424 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
RS369686949 INSR Health Risk Conflicting classifications of pathogenicity INSR-related disorder, INSR-related disorder
RS369687487 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369688121 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
« Prev 1 ... 2645 2646 2647 2648 2649 2650 2651 ... 4509 Next »

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

Get Started Free →