rs144567652
From SNPedia
rare variant associated with breast cancer risk |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | ~3x higher breast cancer risk |
Make rs144567652(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 45198718 |
Gene | FANCM |
is a | snp |
is | mentioned by |
dbSNP | rs144567652 |
dbSNP (classic) | rs144567652 |
ClinGen | rs144567652 |
ebi | rs144567652 |
HLI | rs144567652 |
Exac | rs144567652 |
Gnomad | rs144567652 |
Varsome | rs144567652 |
LitVar | rs144567652 |
Map | rs144567652 |
PheGenI | rs144567652 |
Biobank | rs144567652 |
1000 genomes | rs144567652 |
hgdp | rs144567652 |
ensembl | rs144567652 |
geneview | rs144567652 |
scholar | rs144567652 |
rs144567652 | |
pharmgkb | rs144567652 |
gwascentral | rs144567652 |
openSNP | rs144567652 |
23andMe | rs144567652 |
SNPshot | rs144567652 |
SNPdbe | rs144567652 |
MSV3d | rs144567652 |
GWAS Ctlg | rs144567652 |
Max Magnitude | 3 |
rs144567652, also known as c.5791C>T, p.Arg1931Ter and R1931X, is a SNP in the FANCM gene.
Genotyping 8,635 familial breast cancer cases led to an association with rs144567652, (odds ratio 3.93, CI:1.28-12.11, p=0.017), and two subsequent meta-analyses showed similar [breast cancer]] associations (odds ratio 3.67, CI:1.04-12.87, p=0.043, and, OR of 3.33, CI:1.09-13.62, p=0.032), respectively.[PMID 26130695]
Note: a name used by 23andMe for this SNP is i6050899.