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
RS550931351 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS550939154 CRX Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS550942448 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS550944082 POGLUT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1
RS550945533 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS550947413 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS550949678 COQ2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS550970304 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS550975729 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Inborn genetic diseases
RS550984628 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS550985019 RAG1 Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS550985531 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS550990673 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Inborn genetic diseases
RS550991929 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS550993341 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS550994317 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS550998406 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS550999055 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS551015347 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS551015841 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, Inborn genetic diseases
RS551016059 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS551018622 MYSM1 Health Risk Conflicting classifications of pathogenicity —
RS551030054 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS551032019 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS551034751 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS551038953 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS551045165 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Primary dilated cardiomyopathy
RS551045474 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS551046401 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS551051945 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS551056698 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Cardiovascular phenotype
RS551066377 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS551068158 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS551069830 MED25 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS551078372 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS551080524 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS551090724 DARS1 Health Risk Conflicting classifications of pathogenicity —
RS551098822 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS551099887 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS551102582 FOCAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS551105507 ERCC8 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS551113626 RSPH9 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 12, Primary ciliary dyskinesia
RS551118463 ABCA7 Health Risk Likely pathogenic —
RS551141655 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS551142665 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS551144161 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS551157608 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS551159891 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS551162125 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS551174904 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS551178628 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS551180434 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS551182434 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS551183536 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS551185075 POLE Health Risk Conflicting classifications of pathogenicity —
RS551186831 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1
RS551187778 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS551191744 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS551193020 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS551195183 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS551207815 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS551209662 PITX2 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, PITX2-Related Eye Abnormalities
RS551211003 ERCC2 Health Risk Conflicting classifications of pathogenicity ERCC2-related disorder, ERCC2-related disorder
RS551213215 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, Congenital defect of folate absorption
RS551217010 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS551219437 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS551221430 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS551224676 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS551227065 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS551227135 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis diagnostic test
RS551228795 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS551234479 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis, ABCB4-related disorder
RS551236465 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS551236750 CDKN1B Health Risk Conflicting classifications of pathogenicity Primary hyperparathyroidism, Multiple endocrine neoplasia type 4
RS551244874 HSCB Health Risk Pathogenic Anemia, sideroblastic
RS551255070 OSGEP Health Risk Pathogenic —
RS551265948 ACAN Health Risk Pathogenic —
RS551270527 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, VDR-related disorder
RS551272419 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS551275210 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS551275723 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS551286952 L3MBTL2 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS551289013 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS551295909 ACAD9 Health Risk Pathogenic —
RS551305056 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS551306397 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS551312542 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS551319355 DSC3 Health Risk Pathogenic/Likely pathogenic —
RS551339249 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11
RS551347418 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS551348450 MYO6 Health Risk Likely pathogenic Essential tremor, Nonsyndromic genetic hearing loss
RS551351361 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS551355331 CACNA1C Health Risk Conflicting classifications of pathogenicity —
RS551363957 MYH3 Health Risk Conflicting classifications of pathogenicity —
RS551366324 ARL3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS551368454 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS551369280 RARB Health Risk Conflicting classifications of pathogenicity Microphthalmia, syndromic 12
RS551380805 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS551385421 C3 Health Risk Pathogenic/Likely pathogenic Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
RS551387805 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
« Prev 1 ... 2923 2924 2925 2926 2927 2928 2929 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →