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rs7913069

From SNPedia

1.47 odds ratio for uterine fibroids
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 2.2 1.47x risk for uterine fibroids
(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position103954641
GeneLOC102724351
is asnp
is mentioned by
dbSNPrs7913069
dbSNP (classic)rs7913069
ClinGenrs7913069
ebirs7913069
HLIrs7913069
Exacrs7913069
Gnomadrs7913069
Varsomers7913069
LitVarrs7913069
Maprs7913069
PheGenIrs7913069
Biobankrs7913069
1000 genomesrs7913069
hgdprs7913069
ensemblrs7913069
geneviewrs7913069
scholarrs7913069
googlers7913069
pharmgkbrs7913069
gwascentralrs7913069
openSNPrs7913069
23andMers7913069
SNPshotrs7913069
SNPdbers7913069
MSV3drs7913069
GWAS Ctlgrs7913069
GMAF0.0831
Max Magnitude2.2
? (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 19119139OA-icon.png]). 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]