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
RS531887279 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS531893337 VPS37A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 53, Hereditary spastic paraplegia
RS531905447 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Inborn genetic diseases
RS531916765 ADPRS Health Risk Conflicting classifications of pathogenicity Neurodegeneration, childhood-onset
RS531930335 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS531930614 COL17A1 Health Risk Likely pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local
RS531932249 CREB3L3 Health Risk Pathogenic/Likely pathogenic —
RS531935195 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS531943246 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, See cases
RS531944041 SPTA1 Health Risk Likely pathogenic —
RS531947687 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS531949723 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS531965733 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS531970883 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS531972155 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS531987102 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, complementation group 7
RS531991442 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency
RS531994517 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS532003876 GATAD1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2B, Cardiovascular phenotype
RS532007026 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS532007878 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS532009022 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS532018719 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS532021673 ACTL9 Health Risk Pathogenic Spermatogenic failure 53, Spermatogenic failure 53
RS532025477 SNCA Health Risk Conflicting classifications of pathogenicity Parkinson Disease, Dominant
RS532034867 SYNJ1 Health Risk Conflicting classifications of pathogenicity Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS532042443 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS532044975 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532048791 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS532054402 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS532057629 CRPPA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS532058076 NDUFAF6 Health Risk Conflicting classifications of pathogenicity —
RS532072204 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS532073330 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS532077176 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532091149 C2 Health Risk Conflicting classifications of pathogenicity Complement component 2 deficiency, Age related macular degeneration 14
RS532098737 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS532101469 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS532102837 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS532111320 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS532112751 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532127028 LMF1 Health Risk Conflicting classifications of pathogenicity Lipase deficiency, combined
RS532134925 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS532137455 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Inborn genetic diseases
RS532139907 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS532143625 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Cardiovascular phenotype
RS532147114 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS532151097 STAR Health Risk Pathogenic —
RS532158398 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS532169644 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS532170807 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS532174786 SLC5A7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 20, Neuronopathy
RS532178791 UBA5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44
RS532187086 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532188689 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS532190594 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS532203068 GJB2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
RS532203771 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS532217889 ALS2 Health Risk Pathogenic/Likely pathogenic —
RS532221052 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532223684 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS532224704 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS532225764 ASH1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532230312 PKLR Health Risk Likely pathogenic —
RS532234200 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS532242119 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS532244792 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS532245223 CLDN16 Health Risk Conflicting classifications of pathogenicity Primary hypomagnesemia, Inborn genetic diseases
RS532254032 TPM1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
RS532257048 PGAP3 Health Risk Likely pathogenic —
RS532261094 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS532266535 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS532268197 CDHR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Optic atrophy
RS532275192 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS532281287 TACC2 Health Risk Conflicting classifications of pathogenicity —
RS532285449 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS532289025 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS532290202 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532292359 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS532292902 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS532294036 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
RS532294251 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532302075 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS532310992 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS532319219 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS532325984 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS532329476 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532329866 FOXP1 Health Risk Conflicting classifications of pathogenicity Cerebellar vermis hypoplasia, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS532332781 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS532338576 IGLL1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 2, autosomal recessive
RS532344479 CFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Age related macular degeneration 4
RS532348840 HPS1 Health Risk Likely pathogenic —
RS532351874 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS532356676 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS532360713 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS532365422 ORC3 Health Risk Likely pathogenic ORC3-related disorder, ORC3-related disorder
RS532385139 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS532385451 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS532386334 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS532388240 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
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