Have questions? Visit https://www.reddit.com/r/SNPedia

rs4474514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.8 >3x increased testicular cancer risk for men
(A;G) 1.8 3x increased testicular cancer risk for men
(G;G) 1.2 normal
ReferenceGRCh38 38.1/141
Chromosome12
Position88560182
GeneKITLG
is asnp
is mentioned by
dbSNPrs4474514
ebirs4474514
HLIrs4474514
Exacrs4474514
Varsomers4474514
Maprs4474514
PheGenIrs4474514
hapmaprs4474514
1000 genomesrs4474514
hgdprs4474514
ensemblrs4474514
gopubmedrs4474514
geneviewrs4474514
scholarrs4474514
googlers4474514
pharmgkbrs4474514
gwascentralrs4474514
openSNPrs4474514
23andMers4474514
23andMe allrs4474514
SNP Nexus

SNPshotrs4474514
SNPdbers4474514
MSV3drs4474514
GWAS Ctlgrs4474514
GMAF0.3567
Max Magnitude1.8
? (A;A) (A;G) (G;G) 28
Testicular germ cell tumor risk I("TGCT"; i.e. testicular cancer risk) was increased 3x per copy of the major (A) 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]

SNPs from the same gene were also implicated in testicular cancer risk in a study of 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls.[PMID 19483681OA-icon.png]

OMIM273300
Desc
Variant
Relatedalso
[PMID 21551455OA-icon.png] A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.

[PMID 22072546] Associations between variants in KITLG, SPRY4, BAK1, and DMRT1 and pediatric germ cell tumors.


GET Evidence
rs4474514
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.570312
summary



[PMID 24083421] SNPs in KIT and KITLG genes may be associated with oligospermia in Chinese population


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