rs995030
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 88496894 |
| Gene | KITLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs995030 |
| dbSNP (classic) | rs995030 |
| ClinGen | rs995030 |
| ebi | rs995030 |
| HLI | rs995030 |
| Exac | rs995030 |
| Gnomad | rs995030 |
| Varsome | rs995030 |
| LitVar | rs995030 |
| Map | rs995030 |
| PheGenI | rs995030 |
| Biobank | rs995030 |
| 1000 genomes | rs995030 |
| hgdp | rs995030 |
| ensembl | rs995030 |
| geneview | rs995030 |
| scholar | rs995030 |
| rs995030 | |
| pharmgkb | rs995030 |
| gwascentral | rs995030 |
| openSNP | rs995030 |
| 23andMe | rs995030 |
| SNPshot | rs995030 |
| SNPdbe | rs995030 |
| MSV3d | rs995030 |
| GWAS Ctlg | rs995030 |
| GMAF | 0.3388 |
| Max Magnitude | 2.1 |
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
| ? | (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 19483681 ]
|
| 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] |
[PMID 21617256] 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 19483682] Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.
[PMID 24083421] SNPs in KIT and KITLG genes may be associated with oligospermia in Chinese population
| GWAS snp | |
|---|---|
| PMID | [PMID 23666239]
|
| 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 23666240]
|
| 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] |
[PMID 30012914] Genotyping of single nucleotide polymorphisms using the SNP-RFLP method.
