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
RS569452580 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS569470518 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases
RS569473195 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS569475772 DLX3 Health Risk Conflicting classifications of pathogenicity Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS569483748 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS569497153 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS569510744 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS569512271 MYSM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYSM1-related disorder
RS569517144 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, 8 conditions
RS569519789 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS569525220 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS569527205 MYCN Health Risk Conflicting classifications of pathogenicity MYCN-related disorder, Feingold syndrome type 1
RS569535312 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS569540038 SIX5 Health Risk Conflicting classifications of pathogenicity SIX5-related disorder, SIX5-related disorder
RS569540121 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, B3GLCT-related disorder
RS569541375 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Malignant tumor of urinary bladder
RS569543350 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy with seizures and variable developmental delay, CACNA2D2-related disorder
RS569561277 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS569561856 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS569564278 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS569564663 PKP1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS569565316 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS569565392 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS569567659 AP4E1 Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Spastic paraplegia
RS569578805 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS569590056 TNFRSF4 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency
RS569590633 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS569591337 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS569593251 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS569595277 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS569601905 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS569602115 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS569604699 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS569625319 RELT Health Risk Likely pathogenic —
RS569632202 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS569632869 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS569633512 DNAAF1 Health Risk Pathogenic/Likely pathogenic —
RS569641113 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, 7 conditions
RS569642530 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS569643246 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS569659022 TMEM138 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 16, Inborn genetic diseases
RS569662223 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS569671846 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS569673313 CEP290 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Joubert syndrome 5
RS569673500 PDLIM3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS569675223 OPA1 Health Risk Conflicting classifications of pathogenicity OPA1-related disorder, OPA1-related disorder
RS569680503 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS569681869 COL4A4 Health Risk Likely pathogenic Myopia, Hypertensive disorder
RS569683468 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS569698228 TUBA3D Health Risk Conflicting classifications of pathogenicity —
RS56971020 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS569718323 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS569725936 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS569728764 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS569733779 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS569734777 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel syndrome
RS569739849 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
RS569740494 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS569744194 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS56974573 KRT14 Health Risk Likely pathogenic Epidermolysis bullosa simplex 1C, localized
RS569748371 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS569753606 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS569759069 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
RS569763619 GNRHR Health Risk Conflicting classifications of pathogenicity —
RS569766176 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS569778463 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2M
RS569809153 POLH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS569810249 XRCC2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group U, Hereditary cancer-predisposing syndrome
RS569810738 CABP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS569816178 TTN Health Risk Likely pathogenic —
RS569816517 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS569826109 CERKL Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 26
RS569828117 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS569842479 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS56984562 LMNA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS569846003 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS569847841 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS569854101 FASTKD2 Health Risk Conflicting classifications of pathogenicity —
RS569859973 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS569866483 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS569869571 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS569870332 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS569874323 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS569876357 ANO6 Health Risk Conflicting classifications of pathogenicity —
RS569879011 RYR3 Health Risk Conflicting classifications of pathogenicity —
RS569896060 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS569899625 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS569905004 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS569907876 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS569907931 CNNM4 Health Risk Conflicting classifications of pathogenicity CNNM4-related disorder, CNNM4-related disorder
RS569914227 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS569915247 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS569919781 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS569925016 TBCE Health Risk Conflicting classifications of pathogenicity —
RS569927513 MED23 Health Risk Pathogenic Intellectual disability, autosomal recessive 18
RS569933953 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS569937790 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS569940038 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Inborn genetic diseases
RS569940067 COL4A1 Health Risk Conflicting classifications of pathogenicity Brain small vessel disease 1 with or without ocular anomalies, Microangiopathy and leukoencephalopathy
RS569941836 TACO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex IV deficiency
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