rs4846048
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs4846048(A;A) |
Make rs4846048(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 11786195 |
Gene | C1orf167, MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs4846048 |
dbSNP (classic) | rs4846048 |
ClinGen | rs4846048 |
ebi | rs4846048 |
HLI | rs4846048 |
Exac | rs4846048 |
Gnomad | rs4846048 |
Varsome | rs4846048 |
LitVar | rs4846048 |
Map | rs4846048 |
PheGenI | rs4846048 |
Biobank | rs4846048 |
1000 genomes | rs4846048 |
hgdp | rs4846048 |
ensembl | rs4846048 |
geneview | rs4846048 |
scholar | rs4846048 |
rs4846048 | |
pharmgkb | rs4846048 |
gwascentral | rs4846048 |
openSNP | rs4846048 |
23andMe | rs4846048 |
SNPshot | rs4846048 |
SNPdbe | rs4846048 |
MSV3d | rs4846048 |
GWAS Ctlg | rs4846048 |
GMAF | 0.2544 |
Max Magnitude | 0 |
? | (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 19593234] Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women
[PMID 19493349] 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 31601265] Polymorphisms of MTHFR and TYMS predict capecitabine-induced hand-foot syndrome in patients with metastatic breast cancer.
[PMID 31750632] The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR-522: A preliminary report.
[PMID 32117640] Single nucleotide polymorphism of MTHFR rs1801133 associated with elevated Hcy levels affects susceptibility to cerebral small vessel disease.