rs10088218

This is a intron variant variant in the LINC00824 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

malignant epithelial tumor of ovary

Kuchenbaecker KB et al. “Identification of six new susceptibility loci for invasive epithelial ovarian cancer.” Nature Genetics 47(2):164-71 (2015)
Allele A
OR 1.30
p 1.0e-20
N 13,491
Large GWAS
European

ovarian carcinoma

Goode EL et al. “A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.” Nature Genetics 42(10):874-9 (2010)
Allele G
OR 1.19
p 3.0e-9
N 4,122
Large GWAS
European
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Research that mentions this SNP (2)

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Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA
AssociationN=37,352Madalene A. Earp et al.(2014)· Human Genetics

A genome-wide association study (GWAS) of subtype-specific epithelial ovarian cancer (EOC) using pooled DNA from 545 cases and 398 controls in the discovery stage, followed by replication in 13,188 cases and 23,164 controls. Nine variants tagging six loci were associated with subtype-specific EOC risk (P<0.05), including rs17106154 (OR=1.17, P=0.029) near ZFP36L1/RAD51B for mucinous EOC, rs2190503 (P=0.014, OR=1.11) near GRB10 for endometrioid/clear cell EOC, and rs9609538 (OR=0.84, P=0.0007) near C22orf26/BPIL2 for low-malignant-potential serous EOC, which remained significant after multiple testing correction.

Traits studied:Clear cell ovarian cancerEndometrioid ovarian cancerEpithelial ovarian cancerInvasive serous ovarian cancerLow-malignant-potential serous ovarian cancerMucinous ovarian cancer
PubMedDOIMetascience Observatory
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Ovarian cancer susceptibility alleles and risk of ovarian cancer inBRCA1andBRCA2mutation carriers
AssociationN=14,351Ramus SJ et al.(2012)· Human Mutation

This multi-stage genome-wide association study in 11,705 BRCA1 mutation carriers identified three novel cancer risk-modifying loci: rs2290854 at 1q32 associated with breast cancer (HR=1.14), and rs17631303 (HR=1.27) and rs4691139 (HR=1.20) at 17q21.31 and 4q32.3 respectively associated with ovarian cancer. The 4q32.3 locus showed BRCA1-specific associations. These findings enable improved absolute risk estimation for BRCA1 carriers, with estimated breast cancer lifetime risks ranging from 28-50% for the lowest-risk 5% to 81-100% for the highest-risk 5%.

Traits studied:Breast cancerOvarian cancer
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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