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
RS761931104 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS761931995 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761932822 SLC26A2 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS761932920 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS761934676 TBC1D24 Health Risk Conflicting classifications of pathogenicity Myoclonus, Tremor
RS761934754 DNMT3A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Tatton-Brown-Rahman overgrowth syndrome
RS761934778 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS761934962 FREM2 Health Risk Pathogenic —
RS761935210 PTH1R Health Risk Conflicting classifications of pathogenicity —
RS761935462 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS761936549 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS761937276 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS761937596 NSUN2 Health Risk Likely pathogenic —
RS761937821 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS761937892 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS761939786 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS761940462 FAM161A Health Risk Pathogenic —
RS761941770 CDH3 Health Risk Pathogenic Congenital hypotrichosis with juvenile macular dystrophy, Congenital hypotrichosis with juvenile macular dystrophy
RS761942436 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS761943372 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761943871 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS761944491 CHD1 Health Risk Conflicting classifications of pathogenicity —
RS761944958 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS761945003 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS76194641 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS761946846 CASK Health Risk Conflicting classifications of pathogenicity —
RS761947194 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS761947230 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS761947277 CNGA1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS761947899 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS761948522 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS761949902 ANO5 Health Risk Conflicting classifications of pathogenicity ANO5-Related Muscle Diseases, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS761950154 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS761951444 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS761952496 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS761952835 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Cardiovascular phenotype
RS761952957 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS761953142 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 2
RS761953453 AIFM1 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, Spondyloepimetaphyseal dysplasia
RS761954322 KCNT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS761954844 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS761955039 FUS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761955179 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS761956085 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS761956614 PLA2G6 Health Risk Pathogenic PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
RS761956866 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 2
RS761956867 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS761957186 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS761957607 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS761957837 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS761958762 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS761959231 MED17 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS761960429 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS761960627 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS761960690 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS761960824 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS761961392 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS761962371 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761962752 GDF5 Health Risk Pathogenic Grebe syndrome, Grebe syndrome
RS761962890 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS761963387 UBIAD1 Health Risk Conflicting classifications of pathogenicity Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS761964111 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761964238 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS761964375 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS761964407 SERAC1 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS761965591 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS761965693 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS761966966 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS761967383 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS761967944 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS761968225 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS761969118 CNGB3 Health Risk Pathogenic/Likely pathogenic CNGB3-related disorder, Retinal dystrophy
RS761969307 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Thyroid cancer
RS761969357 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS761969701 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS761970395 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS761971524 MPEG1 Health Risk Pathogenic Immunodeficiency 77, Immunodeficiency 77
RS761971773 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS761972717 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS761974755 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS761974767 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS761974928 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS761975620 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS761975891 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS761976262 P4HB Health Risk Conflicting classifications of pathogenicity Cole-Carpenter syndrome 1, Inborn genetic diseases
RS761977604 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS761977883 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS761978351 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS761978559 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS761978806 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS761979060 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761979292 TRIM37 Health Risk Pathogenic Inborn genetic diseases, Mulibrey nanism syndrome
RS761979645 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761981554 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Retinal dystrophy
RS761981660 KDM6B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS761982169 DNAJC5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS761982475 MC4R Health Risk Conflicting classifications of pathogenicity —
RS761982725 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS761985420 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS761988162 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
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