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rs4846049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs4846049(G;G)
Make rs4846049(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11790308
GeneMTHFR
is asnp
is mentioned by
dbSNPrs4846049
dbSNP (classic)rs4846049
ClinGenrs4846049
ebirs4846049
HLIrs4846049
Exacrs4846049
Gnomadrs4846049
Varsomers4846049
LitVarrs4846049
Maprs4846049
PheGenIrs4846049
Biobankrs4846049
1000 genomesrs4846049
hgdprs4846049
ensemblrs4846049
geneviewrs4846049
scholarrs4846049
googlers4846049
pharmgkbrs4846049
gwascentralrs4846049
openSNPrs4846049
23andMers4846049
SNPshotrs4846049
SNPdbers4846049
MSV3drs4846049
GWAS Ctlgrs4846049
GMAF0.3104
Max Magnitude0
? (G;G) (G;T) (T;T) 28


[PMID 19593234OA-icon.png] Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women


[PMID 22647417] The human MTHFR rs4846049 polymorphism increases coronary heart disease risk through modifying miRNA binding


[PMID 20962791] Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants.


[PMID 25882505] Women who deliver twins are more likely to smoke and have high frequencies of specific SNPs: Results from a sample of African-American women who delivered preterm, low birth weight babies


ClinVar
Risk rs4846049(G;G)
Alt rs4846049(G;G)
Reference Rs4846049(T;T)
Significance Probable-non-pathogenic
Disease Neural tube defects
Variation info
Gene MTHFR
CLNDBN Neural tube defects, folate-sensitive
Reversed 0
HGVS NC_000001.10:g.11850365T>G
CLNSRC
CLNACC RCV000405126.1,



[PMID 32117640OA-icon.png] Single nucleotide polymorphism of MTHFR rs1801133 associated with elevated Hcy levels affects susceptibility to cerebral small vessel disease.