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
RS551957380 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS551963261 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS551972571 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Inborn genetic diseases
RS551973680 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS551975117 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Inborn genetic diseases
RS551983792 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS551984021 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS552007692 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS552008042 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS552010421 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS552023965 ERMARD Health Risk Conflicting classifications of pathogenicity —
RS552025009 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS552039931 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS552052505 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS552058608 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS552065719 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS552069173 CNGA3 Health Risk Pathogenic/Likely pathogenic Abnormality of the eye, Retinal dystrophy
RS552079378 TUBB4A Health Risk Likely pathogenic Torsion dystonia 4, Torsion dystonia 4
RS552079482 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552079714 ERBB4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 19, Inborn genetic diseases
RS552087428 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Cardiac arrhythmia
RS552094593 GBE1 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS552101358 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS552102107 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS552103257 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS552110604 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS552113529 VPS13A Health Risk Conflicting classifications of pathogenicity —
RS552114741 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS552115565 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS552115876 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS552116287 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS552117780 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS552120721 LIPT1 Health Risk Conflicting classifications of pathogenicity Hypotonia, Abnormal cardiovascular system morphology
RS552128204 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS552133535 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS552141374 DNAH10 Health Risk Conflicting classifications of pathogenicity —
RS552141388 NDUFAF6 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS552141978 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS552154823 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS552157433 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS552158003 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS552166978 TCF20 Health Risk Conflicting classifications of pathogenicity TCF20-related disorder, TCF20-related disorder
RS552170649 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS552171716 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552179138 NDUFS7 Health Risk Conflicting classifications of pathogenicity NDUFS7-related disorder, NDUFS7-related disorder
RS552189642 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS552206789 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS552207335 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS552214111 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, CBL-related disorder
RS552217429 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS552219028 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS552235699 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS552239546 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS552241929 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS552244334 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS552249954 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS552252122 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS552260353 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS552265738 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS552272986 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS552290225 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS552292318 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS552292698 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2
RS552296498 MBD4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS552299284 FZD2 Health Risk Conflicting classifications of pathogenicity —
RS552303079 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS552304627 OTOG Health Risk Conflicting classifications of pathogenicity Meniere disease, Autosomal recessive nonsyndromic hearing loss 18B
RS552306481 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS552311966 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS552320263 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS552323537 ALOXE3 Health Risk Conflicting classifications of pathogenicity —
RS552324811 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS552325165 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 3
RS552325363 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS552326056 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS552330205 SMAD9 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS552333286 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS552335696 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS552339299 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS552340796 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS552359043 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS552361923 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS552372867 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 45, Inborn genetic diseases
RS552379031 ESPN Health Risk Conflicting classifications of pathogenicity —
RS552379239 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS552379629 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS552397269 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PTPN23-related disorder
RS552399598 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS552400144 USH2A Health Risk Conflicting classifications of pathogenicity —
RS552401582 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS552402857 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS552415591 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS552419530 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, EPG5-related disorder
RS552421229 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS552422789 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS552424629 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Factor XII deficiency disease
RS552425210 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS552434037 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS552436294 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS552452349 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Inborn genetic diseases
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