rs7913069

1.47 odds ratio for uterine fibroids

plus

Geno	Mag	Summary
(C;C)	0	normal
(C;T)	2.2	1.47x risk for uterine fibroids
(T;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

103954641

Gene	LOC102724351

is a	snp
is	mentioned by
dbSNP	rs7913069
dbSNP (classic)	rs7913069
ClinGen	rs7913069
ebi	rs7913069
HLI	rs7913069
Exac	rs7913069
Gnomad	rs7913069
Varsome	rs7913069
LitVar	rs7913069
Map	rs7913069
PheGenI	rs7913069
Biobank	rs7913069
1000 genomes	rs7913069
hgdp	rs7913069
ensembl	rs7913069
geneview	rs7913069
scholar	rs7913069
google	rs7913069
pharmgkb	rs7913069
gwascentral	rs7913069
openSNP	rs7913069
23andMe	rs7913069
SNPshot	rs7913069
SNPdbe	rs7913069
MSV3d	rs7913069
GWAS Ctlg	rs7913069

GMAF

0.0831

Max Magnitude

2.2

?

(C;C) (C;T) (T;T)

28

rs7913069 is a snp located in an intergenic region of chr 10 at position 105704639. It has been shown in one study to be associated with increased risk for Uterine fibroids.

[PMID 21460842] In an exploratory study of 1612 cases and 1428 controls from Japan, the T allele of rs7913069 was shown to be associated with increased odds of developing uterine fibroids with a pvalue of 7.9x10-8 and an odds ratio of 1.47. The association validated in a second cohort of 3,466 cases and 3,245 controls (also Japanese) by the same authors, with a combined pvalue from both studies of 8.65x10-14.

rs7913069 is located in the L1 repeat L1ME2. Its closest gene neighbors are SLK (12kb downstream), OBFC1 (36.6kb upstream). OBFC1 is a subunit of an alpha accessory factor (AAF) that stimulates the activity of DNA olymerase-alpha-primase, the enzyme that initiates DNA replication (Casteel et al., 2009 [PMID 19119139 ]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (Miyake et al., 2009 [PMID 19854130]).

Uterine fibroids are noncancerous (benign) tumors that develop in the uterus. Uterine fibroids are the most common pelvic tumor. As many as 1 in 5 women may have fibroids during their childbearing years (the time after starting menstruation for the first time and before menopause). Fibroids usually affect women over age 30. They are rare in women under 20, and often shrink and cause no symptoms in women who have gone through menopause. They are more common in African Americans than Caucasians. The cause of uterine fibroid tumors is unknown. However, fibroid growth seems to depend on the hormone estrogen. As long as a woman with fibroids is menstruating, a fibroid will probably continue to grow, usually slowly.

Other snps reported to have significant associations with Uterine fibroids are listed on its page.

GWAS snp
PMID	[PMID 21460842]
Trait
Title	A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids
Risk Allele	A
P-val	9E-14
Odds Ratio	1.4700 [1.23-1.75]