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
RS776999497 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS777001637 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777002239 ERCC6 Health Risk Pathogenic —
RS777002501 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS777002868 POLE Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Hereditary cancer-predisposing syndrome
RS777003245 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS777004046 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS777004957 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS777004968 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS777006583 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS777006706 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS777006911 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS777008062 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS777008254 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS777008519 LIG4 Health Risk Likely pathogenic DNA ligase IV deficiency, Severe combined immunodeficiency disease
RS777008597 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777009012 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, CODAS syndrome
RS777009752 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS777009984 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777010216 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E
RS777010404 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS777011420 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS777011433 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777011507 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS777012140 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS777013412 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS777013688 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS777015846 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Congenital nephrotic syndrome
RS777016690 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS777017196 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS777017571 SNAPC4 Health Risk Pathogenic Neurodevelopmental disorder with motor regression, progressive spastic paraplegia
RS777017599 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777017660 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS777018511 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS777019428 VPS13B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS777021265 CHD4 Health Risk Conflicting classifications of pathogenicity Moyamoya angiopathy with developmental delay, CHD4-related disorder
RS777022647 EDAR Health Risk Pathogenic —
RS777023372 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS777024498 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS777024713 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS777026516 BMPER Health Risk Pathogenic BMPER-related disorder, BMPER-related disorder
RS777027658 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS777027788 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS777027944 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS777028011 VARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS777028481 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS777028631 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777030573 TOE1 Health Risk Pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS777030659 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS777031588 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS777031813 MCIDAS Health Risk Pathogenic Ciliary dyskinesia, primary
RS777032042 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS777032467 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS777033025 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS777033401 DNAH9 Health Risk Pathogenic —
RS777034646 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, See cases
RS777035261 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777036069 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS777038090 MYO5B Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS777039039 PDZD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777040556 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS777040601 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS777041270 RPL11 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 7, Diamond-Blackfan anemia
RS777042053 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS777042445 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS777042785 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS777043855 ZMYND8 Health Risk Conflicting classifications of pathogenicity —
RS777045186 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS777045246 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS777045330 GARS1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS777045339 ITGB4 Health Risk Pathogenic/Likely pathogenic Abnormality of the skin, Junctional epidermolysis bullosa with pyloric atresia
RS777045810 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS777046568 APOA5 Health Risk Conflicting classifications of pathogenicity Familial type 5 hyperlipoproteinemia, Cardiovascular phenotype
RS777046879 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS777048976 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS777049470 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS777049924 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS777049999 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder
RS777051409 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS777051584 KCNV2 Health Risk Pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS77705198 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS777053791 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS777054372 NRXN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777054839 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS777054968 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS777055080 MYH8 Health Risk Conflicting classifications of pathogenicity —
RS777055382 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS777056494 GPR179 Health Risk Pathogenic —
RS777057475 NBAS Health Risk Pathogenic —
RS777057577 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS777057583 LRP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777057767 CC2D1A Health Risk Likely pathogenic Intellectual disability, autosomal recessive 3
RS777059690 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS777060812 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS777061964 DONSON Health Risk Pathogenic Microcephaly, short stature
RS777064652 PTRH2 Health Risk Likely pathogenic Neurologic, endocrine
RS777064703 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS777065347 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS777065614 TDRD9 Health Risk Likely pathogenic Spermatogenic failure 30, Spermatogenic failure 30
RS777065935 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
« Prev 1 ... 3633 3634 3635 3636 3637 3638 3639 ... 4509 Next »

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

Get Started Free →