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rs3782179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.5 9x lower odds of testicular cancer
(C;T) 2 3x lower odds of testicular cancer risk for men
(T;T) 1.5 common, but increased risk of testicular cancer
ReferenceGRCh38 38.1/141
Chromosome12
Position88559549
GeneKITLG
is asnp
is mentioned by
dbSNPrs3782179
dbSNP (classic)rs3782179
ClinGenrs3782179
ebirs3782179
HLIrs3782179
Exacrs3782179
Gnomadrs3782179
Varsomers3782179
LitVarrs3782179
Maprs3782179
PheGenIrs3782179
Biobankrs3782179
1000 genomesrs3782179
hgdprs3782179
ensemblrs3782179
geneviewrs3782179
scholarrs3782179
googlers3782179
pharmgkbrs3782179
gwascentralrs3782179
openSNPrs3782179
23andMers3782179
SNPshotrs3782179
SNPdbers3782179
MSV3drs3782179
GWAS Ctlgrs3782179
GMAF0.3567
Max Magnitude2.5
? (C;C) (C;T) (T;T) 28


Testicular germ cell tumor risk I("TGCT"; i.e. testicular cancer risk) was increased 3x per copy of the major (T) allele at rs3782179 and rs4474514 (OR = 3.08, CI: 2.29–4.13; OR = 3.07, CI = 2.29–4.13, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls. Men who have two copies of the common version of the c-KIT ligand KITLG gene have a 4.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene. [PMID 19483682OA-icon.png]

https://www.23andme.com/you/community/thread/7837/ The original study was also only done in 277 people with the disease and 900 controls, so it's a very small study.

OMIM273300
Desc
Variant
Relatedalso


[PMID 23771924OA-icon.png] Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.