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rs17647532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) reduced risk for ovarian cancer originally reported, but did not replicate in larger study
(C;T) normal risk?
(T;T) normal risk
ReferenceGRCh38 38.1/141
Chromosome18
Position35654108
GeneGALNT1
is asnp
is mentioned by
dbSNPrs17647532
dbSNP (classic)rs17647532
ClinGenrs17647532
ebirs17647532
HLIrs17647532
Exacrs17647532
Gnomadrs17647532
Varsomers17647532
LitVarrs17647532
Maprs17647532
PheGenIrs17647532
Biobankrs17647532
1000 genomesrs17647532
hgdprs17647532
ensemblrs17647532
geneviewrs17647532
scholarrs17647532
googlers17647532
pharmgkbrs17647532
gwascentralrs17647532
openSNPrs17647532
23andMers17647532
SNPshotrs17647532
SNPdbers17647532
MSV3drs17647532
GWAS Ctlgrs17647532
GMAF0.1038
Max Magnitude0
? (C;C) (C;T) (T;T) 28


rs17647532 is a SNP in the GALNT1 gene that has a variant rarely seen in ovarian cancer, which may indicate it is a protective genotype. In a study of 829 patients, the rs17647532(C;C) homozygous genotype was calculated to have an odds ratio for developing ovarian cancer of 0.07 (CI: 0.01-0.53, p=0.00017).[PMID 18268124OA-icon.png]

Unfortunately, perhaps, a subsequent (larger) study by the same authors using 6,965 cases and 8,377 controls from 14 studies forming the Ovarian Cancer Association Consortium was not able to find any significant association between this SNP and risk for (or from) ovarian cancer. As the authors state, "this study underscores the need for replication of putative findings in genetic association studies".[PMID 20142253OA-icon.png]