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rs56069439

From SNPedia

Orientationplus
Stabilizedplus
Make rs56069439(A;A)
Make rs56069439(A;C)
Make rs56069439(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position17283116
GeneANKLE1
is asnp
is mentioned by
dbSNPrs56069439
dbSNP (old)rs56069439
ClinGenrs56069439
ebirs56069439
HLIrs56069439
Exacrs56069439
Gnomadrs56069439
Varsomers56069439
Maprs56069439
PheGenIrs56069439
Biobankrs56069439
1000 genomesrs56069439
hgdprs56069439
ensemblrs56069439
gopubmedrs56069439
geneviewrs56069439
scholarrs56069439
googlers56069439
pharmgkbrs56069439
gwascentralrs56069439
openSNPrs56069439
23andMers56069439
23andMe allrs56069439
SNP Nexus

SNPshotrs56069439
SNPdbers56069439
MSV3drs56069439
GWAS Ctlgrs56069439
Max Magnitude

[PMID 27601076OA-icon.png] Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

European Study:

19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk: analyse 438 SNPs in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10−20), ER-negative BC (P=1.1 × 10−13), BRCA1-associated BC (P=7.7 × 10−16) and triple negative BC (P-diff=2 × 10−5).

Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP; multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.