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rs4846048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs4846048(A;A)
Make rs4846048(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11786195
GeneC1orf167, MTHFR
is asnp
is mentioned by
dbSNPrs4846048
dbSNP (classic)rs4846048
ClinGenrs4846048
ebirs4846048
HLIrs4846048
Exacrs4846048
Gnomadrs4846048
Varsomers4846048
LitVarrs4846048
Maprs4846048
PheGenIrs4846048
Biobankrs4846048
1000 genomesrs4846048
hgdprs4846048
ensemblrs4846048
geneviewrs4846048
scholarrs4846048
googlers4846048
pharmgkbrs4846048
gwascentralrs4846048
openSNPrs4846048
23andMers4846048
SNPshotrs4846048
SNPdbers4846048
MSV3drs4846048
GWAS Ctlgrs4846048
GMAF0.2544
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Associated with lean body mass but not fat body mass in a study of ~1,800 Caucasians [PMID 18180959]


[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 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.


[PMID 25566964] Polymorphisms in the MTHFR gene are associated with breast cancer risk and prognosis in a Chinese population


ClinVar
Risk rs4846048(A;A)
Alt rs4846048(A;A)
Reference Rs4846048(G;G)
Significance Probable-non-pathogenic
Disease Neural tube defects
Variation info
Gene MTHFR C1orf167
CLNDBN Neural tube defects, folate-sensitive
Reversed 0
HGVS NC_000001.10:g.11846252G>A
CLNSRC
CLNACC RCV000301152.1,



[PMID 31601265OA-icon.png] Polymorphisms of MTHFR and TYMS predict capecitabine-induced hand-foot syndrome in patients with metastatic breast cancer.


[PMID 31750632OA-icon.png] The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR-522: A preliminary report.


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