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
RS763902213 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS763902589 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS763902818 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS763904943 STRC Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS763905757 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS763907170 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS763907201 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS763907736 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS763907769 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS763909256 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS763909866 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS763909898 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763909903 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS763910385 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS763910773 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS763911476 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS763911960 NARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763913836 MYH2 Health Risk Pathogenic Myopathy, proximal
RS763914156 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group P
RS763915012 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS763915205 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, OAT-related disorder
RS763915229 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Nonsyndromic genetic hearing loss
RS763915365 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS763915472 KNL1 Health Risk Pathogenic Microcephaly 4, primary
RS763915835 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS763915931 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Inborn genetic diseases
RS763918203 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, TGFB2-related disorder
RS763921000 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS763921769 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS763922121 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS763922486 ENPP1 Health Risk Likely pathogenic Hypophosphatemic rickets, autosomal recessive
RS763925689 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS763926220 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS763926389 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS763926467 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS763927840 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS763928869 IHH Health Risk Conflicting classifications of pathogenicity —
RS763929099 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS763929551 COQ8B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS763929651 GYS2 Health Risk Pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS763930147 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS763930207 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS763930645 EXPH5 Health Risk Pathogenic Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS763930691 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS763931697 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS763932554 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS763932979 WNK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS763933686 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS763935791 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS763935916 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS763936813 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS763937095 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS763937206 AARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS763937444 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS763938154 RFX5 Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS763938484 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS763939252 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS763939668 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763940836 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS763941231 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, TPO-related disorder
RS763941232 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS763941291 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763941524 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS763942380 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS763943362 MYO18B Health Risk Pathogenic —
RS763943642 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS763943647 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS763944721 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS763944786 RYR1 Health Risk Conflicting classifications of pathogenicity Delayed gross motor development, Scoliosis
RS763944821 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS763944898 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS763945332 IRF8 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
RS763945561 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS763945631 PCYT2 Health Risk Pathogenic Spastic paraplegia 82, autosomal recessive
RS763947043 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS76394784 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS763948485 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS763948508 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763949265 IMPG1 Health Risk Likely pathogenic —
RS763949276 PCCB Health Risk Likely pathogenic —
RS763949764 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS763950769 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS763950976 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS763951036 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS763951474 NARS2 Health Risk Pathogenic —
RS763951482 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS763952078 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS763952844 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS763953036 SLC4A11 Health Risk Pathogenic —
RS763953379 TMEM240 Health Risk Conflicting classifications of pathogenicity —
RS763953406 HPRT1 Health Risk Conflicting classifications of pathogenicity Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS763953500 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS763953558 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS763953657 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS763954299 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Amyotrophic neuralgia
RS763954439 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS763954903 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763955301 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS763955674 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS763957405 SLC24A1 Health Risk Pathogenic —
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