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
RS746882521 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS746883447 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS746883617 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS746884533 HSD3B7 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1
RS746887949 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS746888009 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
RS746888105 HERC1 Health Risk Conflicting classifications of pathogenicity HERC1-related disorder, HERC1-related disorder
RS746888203 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS746889239 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS746890032 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS746890210 GATAD2B Health Risk Conflicting classifications of pathogenicity —
RS746890435 AP4B1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS746890698 PLG Health Risk Conflicting classifications of pathogenicity —
RS746890847 LAMC3 Health Risk Likely pathogenic —
RS746890917 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS746891574 PGAP3 Health Risk Pathogenic/Likely pathogenic —
RS746892102 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Dilated cardiomyopathy 1E
RS746892435 FLNB Health Risk Pathogenic Larsen syndrome, Larsen syndrome
RS746892668 GJA3 Health Risk Conflicting classifications of pathogenicity Cataract 14 multiple types, Cataract 14 multiple types
RS746894026 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Malignant lymphoma
RS746894028 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Autism
RS746894544 TMTC3 Health Risk Pathogenic/Likely pathogenic Lissencephaly 8, Lissencephaly 8
RS746895795 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS746896173 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS74689714 AIM2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, AIM2-related disorder
RS746897461 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS746897836 PTCD3 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
RS746897918 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS746898855 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS746899278 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS74689946 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS746900457 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS746900872 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS746901224 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cervical cancer
RS746903157 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746903647 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS746903992 DNM2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS746904068 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS746904214 SOX6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS746904755 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS746904839 RYR1 Health Risk Pathogenic RYR1-related disorder, Malignant hyperthermia
RS746905091 AMHR2 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Persistent Mullerian duct syndrome
RS746906314 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS746906367 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS746907276 TK2 Health Risk Pathogenic —
RS746909024 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS74691009 CHRNG Health Risk Conflicting classifications of pathogenicity —
RS746910149 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS746910535 SLC6A9 Health Risk Likely pathogenic Atypical glycine encephalopathy, Atypical glycine encephalopathy
RS746911004 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Spastic ataxia
RS746911939 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS746912694 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS746912942 TYR Health Risk Pathogenic —
RS746913146 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS746913301 SPG21 Health Risk Conflicting classifications of pathogenicity Mast syndrome, Mast syndrome
RS746914281 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS746914291 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS746914362 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS746915003 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS746915145 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS746915794 FREM2 Health Risk Pathogenic/Likely pathogenic Isolated cryptophthalmia, Fraser syndrome 2
RS746918429 ATXN2 Health Risk Conflicting classifications of pathogenicity —
RS746918706 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS746919701 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS746920262 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS746920603 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS746920623 KDM3B Health Risk Pathogenic —
RS746920956 ZMYM2 Health Risk Pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS746922378 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS746922418 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746923719 ADGRV1 Health Risk Likely pathogenic —
RS74692381 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS746923835 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS746923911 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNFRSF1A-related disorder
RS746924883 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS746925345 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS746926057 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS746926335 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746926891 HSD3B7 Health Risk Conflicting classifications of pathogenicity HSD3B7-related disorder, HSD3B7-related disorder
RS746927261 GATAD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746928288 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746929871 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS746929943 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS746930141 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS746930351 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS746930362 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS746930990 ITPA Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 35
RS746932608 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS746932890 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746932951 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS746933095 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS746933398 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS746933813 KRT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746934517 CSGALNACT1 Health Risk Pathogenic —
RS746934962 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS746935735 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS746935915 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS746936485 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS746938160 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS746939188 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
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