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
RS1489129465 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1489132337 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS148913636 KCNQ4 Health Risk Conflicting classifications of pathogenicity KCNQ4-related disorder, KCNQ4-related disorder
RS148913728 TGM5 Health Risk Conflicting classifications of pathogenicity Acral peeling skin syndrome, TGM5-related disorder
RS148913798 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS1489140479 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS148914171 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS148914290 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS1489149705 NR2E3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Enhanced S-cone syndrome
RS148915045 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS148915942 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS1489165107 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAH11-related disorder
RS148916790 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1489175048 CEP290 Health Risk Pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS1489175329 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Lymphangiomyomatosis
RS1489175898 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS148917889 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS148917929 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1489180181 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS148918111 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS148918486 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS148918729 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS148918985 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS1489209061 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS148920986 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Congenital multicore myopathy with external ophthalmoplegia
RS1489216585 ACY1 Health Risk Pathogenic —
RS148921681 CASS4 Health Risk Conflicting classifications of pathogenicity —
RS1489217206 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS148921993 YARS2 Health Risk Conflicting classifications of pathogenicity YARS2-related disorder, YARS2-related disorder
RS1489220084 PNPLA8 Health Risk Pathogenic —
RS1489224386 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS148923187 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS1489240592 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1489245076 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS148924904 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS148925399 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
RS148925426 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, ATP2A1-related disorder
RS148925505 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS148925665 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMC2-related disorder
RS1489258620 BPTF Health Risk Conflicting classifications of pathogenicity —
RS148925938 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1489262806 IL36RN Health Risk Likely pathogenic Generalized pustular psoriasis, Generalized pustular psoriasis
RS148927296 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder
RS148927511 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS148927894 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS148928178 PAX1 Health Risk Conflicting classifications of pathogenicity PAX1-related disorder, PAX1-related disorder
RS148928808 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS148929548 COL4A6 Health Risk Conflicting classifications of pathogenicity Hearing loss, X-linked 6
RS1489297664 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS148930043 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS1489308019 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS148930837 SCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1489314131 ATP13A3 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary hypertension
RS148931484 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, SALL1-related disorder
RS1489315815 CAVIN1 Health Risk Pathogenic Congenital generalized lipodystrophy type 4, Congenital generalized lipodystrophy type 4
RS148931779 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS148931962 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS148932047 POLR3A Health Risk Pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS148932323 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS148932488 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148933850 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Inborn genetic diseases
RS1489341724 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148934350 EGFR Health Risk Conflicting classifications of pathogenicity Lung carcinoma, EGFR-related lung cancer
RS1489345430 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS148934699 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS1489351299 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Inborn genetic diseases
RS148935165 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148935214 RET Health Risk Conflicting classifications of pathogenicity Elevated basal serum calcitonin, Hereditary cancer-predisposing syndrome
RS1489355776 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS148935596 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS148935720 MPDU1 Health Risk Conflicting classifications of pathogenicity MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS148936043 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS1489361512 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS148936510 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS148936584 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1489368528 KIF12 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS148936893 ADA2 Health Risk Pathogenic/Likely pathogenic Deficiency of adenosine deaminase 2, Sneddon syndrome
RS148937466 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS148937517 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1489377964 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148938083 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 43
RS1489386089 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1489387064 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS148938946 MYH11 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aortic aneurysm
RS148939095 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS148939701 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS148939995 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS148940145 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS1489407796 LAMA3 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 2B
RS148941150 POLG2 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
RS148941732 PRPF31 Health Risk Conflicting classifications of pathogenicity —
RS148942046 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS148942084 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS148942346 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS148942437 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS148942765 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
RS1489429320 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS148943299 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS148943954 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS1489439743 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
« Prev 1 ... 712 713 714 715 716 717 718 ... 4509 Next »

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

Get Started Free →