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
RS376790302 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS376790408 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS376790729 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS376790946 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS376791249 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CNGB1-related disorder
RS376791448 ADAMTSL4 Health Risk Pathogenic —
RS376791829 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 2
RS376792824 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376794557 KYNU Health Risk Conflicting classifications of pathogenicity Hydroxykynureninuria, Hydroxykynureninuria
RS376796243 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS376797260 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Autosomal dominant nonsyndromic hearing loss 13
RS376797385 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS376797615 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS376798792 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376799249 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376799353 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS376799532 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376799601 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS376799861 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS376799914 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS376800688 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376801256 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS376802160 RHO Health Risk Conflicting classifications of pathogenicity —
RS376802484 FAM20A;PRKAR1A Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta type 1G, Inborn genetic diseases
RS376803162 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS376803348 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376803353 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, Cataract 6 multiple types
RS376803411 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS376804660 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS376805544 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS376805784 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS376805794 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS376805833 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376805857 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Inborn genetic diseases
RS376806146 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS376806735 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS376807461 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376807770 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS376808313 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Congenital myasthenic syndrome
RS376808920 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS376809177 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS376809475 GBE1 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease
RS376810032 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS376810057 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS376810671 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS376810829 DIS3 Health Risk Conflicting classifications of pathogenicity DIS3-related disorder, DIS3-related disorder
RS376811907 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS376812264 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS376813674 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376814395 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS376814421 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS376814602 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376815580 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Inborn genetic diseases
RS376815626 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B
RS376816463 SI Health Risk Likely pathogenic —
RS376817614 NFE2L2 Health Risk Conflicting classifications of pathogenicity —
RS376817637 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS376818323 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376819187 VLDLR Health Risk Conflicting classifications of pathogenicity —
RS376819753 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS376820301 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS376820575 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS376820857 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS376821187 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Thyroid cancer
RS376821494 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS376821762 TTN Health Risk Conflicting classifications of pathogenicity —
RS376821996 FAM20A Health Risk Conflicting classifications of pathogenicity —
RS376822761 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Inborn genetic diseases
RS376823275 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS376823280 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS376823283 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376823382 TYR Health Risk Conflicting classifications of pathogenicity 8 conditions, Oculocutaneous albinism type 1A
RS376823689 CLCN2 Health Risk Likely pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS376823839 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS376824528 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS376824714 PSAT1 Health Risk Pathogenic/Likely pathogenic Neu-Laxova syndrome 2, Neurometabolic disorder due to serine deficiency
RS376824871 SERPINH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376825608 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS376825639 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS376825814 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS376827010 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS376827094 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS376827900 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Ogna type
RS376830015 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS376830217 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS376830288 DNMT3A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS376830567 MFAP5 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
RS376830687 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS376830846 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS376833286 CUX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376833596 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS376833921 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS376834551 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL2A1-related disorder
RS376834704 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS376835293 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS376836503 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS376837791 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS376838042 SCLT1 Health Risk Conflicting classifications of pathogenicity SCLT1-related disorder, SCLT1-related disorder
RS376839271 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS376839366 RAB23 Health Risk Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome, Carpenter syndrome
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