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rs995030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.1 Reduced risk of testicular cancer
(A;G) 2 reduced risk of testicular cancer in men
(G;G) 1.5 non-protective against testicular cancer
ReferenceGRCh38 38.1/141
Chromosome12
Position88496894
GeneKITLG
is asnp
is mentioned by
dbSNPrs995030
ebirs995030
HLIrs995030
Exacrs995030
Varsomers995030
Maprs995030
PheGenIrs995030
hapmaprs995030
1000 genomesrs995030
hgdprs995030
ensemblrs995030
gopubmedrs995030
geneviewrs995030
scholarrs995030
googlers995030
pharmgkbrs995030
gwascentralrs995030
openSNPrs995030
23andMers995030
23andMe allrs995030
SNP Nexus

SNPshotrs995030
SNPdbers995030
MSV3drs995030
GWAS Ctlgrs995030
GMAF0.3388
Max Magnitude2.1
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

? (A;A) (A;G) (G;G) 28

23andMe blog each rs4624820(G) increases the odds of testicular cancer by 2.5x.


As reported by the CPMC, relative to men who are rs995030(G;G), men who are rs995030(A;G) have a 0.38 relative risk, and those who are (A;A) have a 0.15 relative risk.

GWAS snp
PMID [PMID 19483681OA-icon.png]
Trait Testicular germ cell tumor
Title A genome-wide association study of testicular germ cell tumor
Risk Allele G
P-val 1E-31
Odds Ratio 2.55 [2.05-3.19]
OMIM273300
Desc
Variant
Relatedalso
[PMID 21617256OA-icon.png] Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour


[PMID 22194441] Variants in KITLG predispose to testicular germ cell cancer independently from spermatogenic function.

[PMID 16905672] Association of genetic markers within the KIT and KITLG genes with human male infertility.

[PMID 19483682OA-icon.png] Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.


GET Evidence
rs995030
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

GWAS snp
PMID [PMID 23666239OA-icon.png]
Trait Testicular germ cell tumor
Title Meta-analysis identifies four new loci associated with testicular germ cell tumor.
Risk Allele A
P-val 3E-13
Odds Ratio 2.33 [1.85-2.94]
GWAS snp
PMID [PMID 23666240OA-icon.png]
Trait Testicular germ cell tumor
Title Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
Risk Allele G
P-val 2E-50
Odds Ratio 2.26 [1.95-2.61]