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
RS754949903 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS754950305 TTLL5 Health Risk Pathogenic —
RS75495145 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS754951889 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS754952690 FOXRED1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 19
RS754953201 KYNU Health Risk Likely pathogenic Vertebral, cardiac
RS754953607 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754954058 SLC6A6 Health Risk Likely pathogenic Retinal degeneration, Hypotaurinemic retinal degeneration and cardiomyopathy
RS754955081 TARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754955930 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS754956606 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS754957702 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS754959175 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS754959739 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS754961413 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS754962799 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754964560 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS754964952 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS754966256 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS754966840 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS754966903 ADAMTSL4 Health Risk Pathogenic Ectopia lentis et pupillae, Ectopia lentis et pupillae
RS754967473 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS754967981 ERCC2 Health Risk Likely pathogenic Xeroderma pigmentosum, group D
RS754968844 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS754969453 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS754969545 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS754970095 USH2A Health Risk Pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS754970719 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754971328 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS754971913 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS754972548 TTN Health Risk Conflicting classifications of pathogenicity —
RS754972981 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder
RS754973022 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS754973185 EIF2AK3 Health Risk Pathogenic/Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS754973425 SLC4A1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis, distal
RS754973533 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS754974533 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS754974807 PRLR Health Risk Pathogenic Familial hyperprolactinemia, Familial hyperprolactinemia
RS754975137 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS754975339 COQ8B Health Risk Likely pathogenic Nephrotic syndrome, type 9
RS754975346 SLC5A5 Health Risk Pathogenic —
RS754975887 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS754976013 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS754976419 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS754976942 WDR62 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS754978531 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS754978734 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, 7 conditions
RS754979734 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS754980119 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Thrombophilia due to thrombin defect
RS754980175 SPEG Health Risk Conflicting classifications of pathogenicity —
RS754980255 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754981072 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS754981255 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS754982008 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS754982088 F5 Health Risk Pathogenic Congenital factor V deficiency, Thrombophilia due to activated protein C resistance
RS754982151 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS754982401 QDPR Health Risk Conflicting classifications of pathogenicity Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS754982440 UPF3B Health Risk Conflicting classifications of pathogenicity Severe global developmental delay, Microcephaly
RS754983126 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS754984293 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS754985710 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS754986197 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS754986558 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS754986694 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS754987281 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, OTOGL-related disorder
RS75498935 PDX1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS754989357 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS754989398 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS754990648 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754990692 MTRR Health Risk Pathogenic Homocystinuria without methylmalonic aciduria, Methylcobalamin deficiency type cblE
RS754991269 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases
RS754992012 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS754992629 FMO3 Health Risk Pathogenic —
RS754992743 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS754993031 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS754993079 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS754993965 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS754993978 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS754995756 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS754995805 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS754997301 RARS1 Health Risk Pathogenic —
RS754997935 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS754997963 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
RS754998068 PAN2 Health Risk Pathogenic/Likely pathogenic PAN2-related multiple congenital anomalies syndrome, DEVELOPMENTAL DELAY WITH VARIABLE CARDIAC AND RENAL CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
RS754998423 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS754998680 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754999613 ORC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755000580 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS755000631 ORC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755000701 TENM3 Health Risk Likely pathogenic Microphthalmia, isolated
RS755002147 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 24
RS755002206 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS755002843 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755003900 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS755004291 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755004355 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS755004951 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS755005244 IFT122 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS755005828 TAP2 Health Risk Likely pathogenic MHC class I deficiency, MHC class I deficiency
RS755006924 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
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