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
RS371963928 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS371964662 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS371964860 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7
RS371965391 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS371966353 RYR2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS371967419 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS371967475 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
RS371967814 ACTG1 Health Risk Likely pathogenic —
RS371968149 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS371968769 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS371969268 PSMB8 Health Risk Conflicting classifications of pathogenicity Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome
RS371970228 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS371970388 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
RS371970440 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS371970491 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL18A1-related disorder
RS371971257 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, severe infantile form
RS371972266 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS371972467 SMS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371973579 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371974287 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS371974305 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371975235 PROM1 Health Risk Conflicting classifications of pathogenicity —
RS371976170 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS371977235 SLC2A2 Health Risk Pathogenic Type 2 diabetes mellitus, Fanconi-Bickel syndrome
RS371977439 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS371977822 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS371979518 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS371980996 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS371981035 ADGRV1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinal dystrophy
RS371981915 CYP19A1 Health Risk Pathogenic/Likely pathogenic —
RS371983298 PLEC Health Risk Conflicting classifications of pathogenicity PLEC-related disorder, Epidermolysis bullosa simplex 5C
RS371983878 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS371984550 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10
RS371985121 TYR Health Risk Conflicting classifications of pathogenicity TYR-related disorder, TYR-related disorder
RS371986594 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS371986686 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Inborn genetic diseases
RS371987644 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS371988066 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, OPA1-related disorder
RS371988345 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS371988447 FCSK Health Risk Conflicting classifications of pathogenicity —
RS371988490 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS371988639 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS371988852 ITPR1 Health Risk Conflicting classifications of pathogenicity ITPR1-related disorder, ITPR1-related disorder
RS371990882 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS371991224 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS371991943 MECOM Health Risk Conflicting classifications of pathogenicity —
RS371992419 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS371993070 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS371994521 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 7 with or without anosmia
RS371994634 STRC Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 16, STRC-related disorder
RS371996901 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371998882 SFTPC Health Risk Conflicting classifications of pathogenicity —
RS371999853 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS372000714 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS372000875 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS372000933 MMP13 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Missouri type
RS372001018 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS372001660 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS372002816 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS372004236 NDUFS8 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS372004424 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS372004762 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372005251 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS372005280 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Inborn genetic diseases
RS372006332 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS372006606 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS372006680 LRRC56 Health Risk Conflicting classifications of pathogenicity —
RS372006750 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS372007135 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, TSC2-related disorder
RS372007534 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS372007689 ZBTB18 Health Risk Conflicting classifications of pathogenicity ZBTB18-related disorder, ZBTB18-related disorder
RS372008124 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS372008961 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS372009130 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372010465 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS372010975 GPC3 Health Risk Conflicting classifications of pathogenicity —
RS372011095 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS372013406 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS372013515 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS372013791 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS372013808 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS372014001 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS372014020 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS372015149 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS372015884 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS372016316 NSMCE2 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 10, Seckel syndrome 10
RS372017066 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372017604 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS372019333 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372019431 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372019457 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS372019796 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS372020405 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS372020804 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS372021340 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS372022185 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372022187 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372022584 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS372022664 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS372023163 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Short QT syndrome type 1
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