Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1050565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal
(A;G) 0 normal
(G;G) 2 if testicular cancer patient, 5x poorer response to bleomycin chemotherapy
ReferenceGRCh38 38.1/141
Chromosome17
Position30249058
GeneBLMH
is asnp
is mentioned by
dbSNPrs1050565
dbSNP (old)rs1050565
ClinGenrs1050565
ebirs1050565
HLIrs1050565
Exacrs1050565
Gnomadrs1050565
Varsomers1050565
Maprs1050565
PheGenIrs1050565
Biobankrs1050565
1000 genomesrs1050565
hgdprs1050565
ensemblrs1050565
gopubmedrs1050565
geneviewrs1050565
scholarrs1050565
googlers1050565
pharmgkbrs1050565
gwascentralrs1050565
openSNPrs1050565
23andMers1050565
23andMe allrs1050565
SNPshotrs1050565
SNPdbers1050565
MSV3drs1050565
GWAS Ctlgrs1050565
GMAF0.2736
Max Magnitude2
? (A;A) (A;G) (G;G) 28

Testicular cancer patients may be treated with bleomycin, a cytotoxic drug that is essential component of chemotherapy regimens for this cancer, officially known as disseminated testicular germ-cell cancer (TC). rs1050565 is a SNP in the BLMH gene. This gene encodes a protein that can inactivate bleomycin.

Based on a study of 300 TC patients treated with bleomycin, a testicular cancer patient with a rs1050565(G;G) genotype has an odds ratio of 4.97 (CI: 2.17 - 11.39) for TC-related death compared to (A;G) or (A;A) genotypes. The rs1050565(G;G) genotype also shows a higher prevalence of early relapses.[PMID 18398146]


OMIM602403
Desc
Variant0001
Relatedalso


ClinVar
Risk Rs1050565(G;G)
Alt Rs1050565(G;G)
Reference Rs1050565(A;A)
Significance Non-pathogenic
Disease BLEOMYCIN HYDROLASE POLYMORPHISM
Variation info
Gene BLMH
CLNDBN BLEOMYCIN HYDROLASE POLYMORPHISM
Reversed 1
HGVS NC_000017.10:g.28576076T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007670.2,



[PMID 15995945OA-icon.png] Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.


[PMID 19673036OA-icon.png] Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population.