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
RS61730328 ZFP57 Health Risk Pathogenic Diabetes mellitus, transient neonatal
RS61730334 FGF8 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly sequence, Holoprosencephaly sequence
RS61730489 IGSF3 Health Risk Pathogenic/Likely pathogenic Familial congenital nasolacrimal duct obstruction, Familial congenital nasolacrimal duct obstruction
RS61730509 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 3
RS61730537 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS61730638 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS61730768 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS61730807 MYH8 Health Risk Conflicting classifications of pathogenicity MYH8-related disorder, MYH8-related disorder
RS61730847 MMP20 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS61730848 MMP20 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A2, MMP20-related disorder
RS61730849 MMP20 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A2, MMP20-related disorder
RS61730903 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Hepatocellular carcinoma
RS61730919 CHMP1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61730987 NCOA6 Health Risk Conflicting classifications of pathogenicity —
RS61731011 DSPP Health Risk Conflicting classifications of pathogenicity Deafness, autosomal dominant 39
RS61731073 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS61731102 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS61731112 TNR Health Risk Conflicting classifications of pathogenicity Parkinson disease, Parkinson disease
RS61731136 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, SALL1-related disorder
RS61731146 ADORA1 Health Risk Conflicting classifications of pathogenicity ADORA1-related disorder, ADORA1-related disorder
RS61731186 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS61731381 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Inborn genetic diseases
RS61731387 PCDH15 Health Risk Pathogenic —
RS61731407 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS61731412 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS61731477 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TBC1D24-related disorder
RS61731478 TBC1D24 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS61731589 P2RX5 Health Risk Conflicting classifications of pathogenicity —
RS61731628 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS61731629 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS61731652 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases
RS61731667 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS61731714 ERCC4 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Xeroderma pigmentosum
RS61731735 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS61731823 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS61731831 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS61731907 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS61731910 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS61731921 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS61731946 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS61731956 NR1H3 Health Risk Pathogenic Multiple sclerosis, Multiple sclerosis
RS61731973 ABCC6 Health Risk Pathogenic —
RS61731996 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS61732003 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS61732021 HS6ST1 Health Risk Conflicting classifications of pathogenicity —
RS61732056 CAMK2A Health Risk Pathogenic Intellectual disability, autosomal dominant 53
RS61732144 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Inborn genetic diseases
RS61732159 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS61732167 DNAJC30 Health Risk Pathogenic/Likely pathogenic DNAJC30-associated disorder, Leber hereditary optic neuropathy
RS61732179 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Age related macular degeneration 1
RS61732295 GJB3 Health Risk Conflicting classifications of pathogenicity GJB3-related disorder, GJB3-related disorder
RS61732424 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS61732521 PLCE1 Health Risk Conflicting classifications of pathogenicity —
RS61732523 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS61732532 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, TGFBR2-related disorder
RS61732534 STARD9 Health Risk Conflicting classifications of pathogenicity STARD9-related disorder, STARD9-related disorder
RS61732584 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS61732609 CYB5R3 Health Risk Pathogenic METHEMOGLOBINEMIA, TYPE II
RS61732702 TMEM260 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TMEM260-related disorder
RS61732728 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, ANO10-related disorder
RS61732733 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS61732782 TP63 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 8, TP63-Related Spectrum Disorders
RS61732846 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Weaver syndrome
RS61732874 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS61733104 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS61733105 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS61733140 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, MTTP-related disorder
RS61733203 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS61733248 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta
RS61733287 ADAM8 Health Risk Conflicting classifications of pathogenicity —
RS61733318 ANGPT2 Health Risk Pathogenic Lymphatic malformation 10, Lymphatic malformation 10
RS61733327 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, ASNS-related disorder
RS61733344 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS61733362 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 43, Retinitis pigmentosa
RS61733390 VCAN Health Risk Conflicting classifications of pathogenicity VCAN-related disorder, Inborn genetic diseases
RS61733406 MMP13 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Missouri type
RS61733448 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS61733519 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS61733565 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS61733577 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS61733590 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS61733615 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS61733629 ABCB6 Health Risk Conflicting classifications of pathogenicity Dyschromatosis universalis hereditaria 3, Microphthalmia
RS61733679 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS61733680 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS61733683 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS61733857 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS61733863 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS61733901 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder
RS61733910 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS61733946 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS61733968 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS61733982 TBCK Health Risk Conflicting classifications of pathogenicity TBCK-related disorder, TBCK-related disorder
RS61734125 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS61734163 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS61734178 FGD1 Health Risk Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS61734214 OTOG Health Risk Conflicting classifications of pathogenicity Meniere disease, Meniere disease
RS61734270 PTGIS Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS61734296 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS61734338 SLC19A2 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Megaloblastic anemia
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