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
RS763470424 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS763471007 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS763471771 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS763471784 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS763472009 MYH14 Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Autosomal dominant nonsyndromic hearing loss 4A
RS76347207 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS763472560 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763472931 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS763473729 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS763473739 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, TBX3-related disorder
RS763473883 PDHX Health Risk Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS763473957 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 4
RS763474887 CTSD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS763475207 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS763475304 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Familial cancer of breast
RS763475800 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS763476625 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS763477215 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Lymphatic malformation 6
RS763478027 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS763478051 LOXHD1 Health Risk Pathogenic —
RS763478578 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS763478809 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS763480439 FASTKD2 Health Risk Pathogenic —
RS763480874 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS763480901 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS763481375 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B
RS763481567 UNC119 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, UNC119-related disorder
RS763483604 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS763483913 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763484552 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763484977 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS763485258 TENM4 Health Risk Pathogenic Tremor, hereditary essential
RS763485521 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS763485576 IFITM5 Health Risk Conflicting classifications of pathogenicity IFITM5-related disorder, Inborn genetic diseases
RS763486267 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS763486732 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Joubert syndrome
RS763487370 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS763487608 MYO18B Health Risk Pathogenic/Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Inborn genetic diseases
RS763489227 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS763489828 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS763491465 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS763492075 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2A2
RS763492540 TNRC6B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS763492773 MPDZ Health Risk Pathogenic —
RS763493738 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS763494292 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Inborn genetic diseases
RS763494431 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS763496520 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS763496524 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS763496595 ALG1 Health Risk Pathogenic/Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS763497329 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS763499196 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS763499782 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS763500364 RNU4ATAC Health Risk Pathogenic Osteodysplastic primordial dwarfism, type 1
RS763500409 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS763500580 ALOXE3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763501714 PHKB Health Risk Pathogenic Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXb
RS763501978 COL18A1 Health Risk Pathogenic —
RS763502240 RECQL Health Risk Conflicting classifications of pathogenicity —
RS763502626 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS763502735 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS763503078 GJA1 Health Risk Conflicting classifications of pathogenicity Oculodentodigital dysplasia, autosomal recessive
RS763503121 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS763504656 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS763504952 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS763505357 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS763505389 DNAH17 Health Risk Likely pathogenic Short stature, Short stature
RS763505877 HMX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763506612 WNT10A Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS763506869 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS763506909 DPH1 Health Risk Pathogenic —
RS763507546 PKD2 Health Risk Conflicting classifications of pathogenicity Multiple renal cysts, Hydrocele testis
RS763507671 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS763507812 TRAPPC11 Health Risk Likely pathogenic —
RS763507962 VPS13D Health Risk Pathogenic —
RS763508329 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS763508503 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS763508870 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS763509989 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS763510435 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS763510526 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS763511343 ACO2 Health Risk Conflicting classifications of pathogenicity Optic atrophy 9, Optic atrophy 9
RS763513784 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS763514033 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS763514968 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS763515150 RIC1 Health Risk Conflicting classifications of pathogenicity Catifa syndrome, Catifa syndrome
RS763515165 CDC45 Health Risk Pathogenic —
RS763515261 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS763515820 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS763516009 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS763516132 SRD5A3 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS763516197 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763517274 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS763517499 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS763518239 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS763518333 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS763520594 ACAD8 Health Risk Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS763521056 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS763523179 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763523329 STING1 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Autoinflammatory syndrome
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