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rs45590836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs45590836(A;A)
Make rs45590836(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11791216
GeneMTHFR
is asnp
is mentioned by
dbSNPrs45590836
ebirs45590836
HLIrs45590836
Exacrs45590836
Varsomers45590836
Maprs45590836
PheGenIrs45590836
hapmaprs45590836
1000 genomesrs45590836
hgdprs45590836
ensemblrs45590836
gopubmedrs45590836
geneviewrs45590836
scholarrs45590836
googlers45590836
pharmgkbrs45590836
gwascentralrs45590836
openSNPrs45590836
23andMers45590836
23andMe allrs45590836
SNP Nexus

SNPshotrs45590836
SNPdbers45590836
MSV3drs45590836
GWAS Ctlgrs45590836
Max Magnitude0
OMIM607093
Desc5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
Variant
Relatedalso
OMIM607093
Desc
Variant0010
Relatedalso


ClinVar
Risk rs45590836(A;A)
Alt rs45590836(A;A)
Reference rs45590836(G;G)
Significance Pathogenic
Disease Homocysteinemia due to MTHFR deficiency
Variation info
Gene MTHFR
CLNDBN Homocysteinemia due to MTHFR deficiency
Reversed 1
HGVS NC_000001.10:g.11851273C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003705.2,



[PMID 19421414OA-icon.png] Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.