rs1050565

minus

Geno	Mag	Summary
(A;A)	0	normal
(A;G)	0	normal
(G;G)	2	if testicular cancer patient, 5x poorer response to bleomycin chemotherapy

Reference

GRCh38 38.1/141

Chromosome

17

Position

30249058

Gene

BLMH

is a	snp
is	mentioned by
dbSNP	rs1050565
dbSNP (classic)	rs1050565
ClinGen	rs1050565
ebi	rs1050565
HLI	rs1050565
Exac	rs1050565
Gnomad	rs1050565
Varsome	rs1050565
LitVar	rs1050565
Map	rs1050565
PheGenI	rs1050565
Biobank	rs1050565
1000 genomes	rs1050565
hgdp	rs1050565
ensembl	rs1050565
geneview	rs1050565
scholar	rs1050565
google	rs1050565
pharmgkb	rs1050565
gwascentral	rs1050565
openSNP	rs1050565
23andMe	rs1050565
SNPshot	rs1050565
SNPdbe	rs1050565
MSV3d	rs1050565
GWAS Ctlg	rs1050565

GMAF

0.2736

Max Magnitude

2

?

(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]

OMIM	602403
Desc
Variant	0001
Related	also

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

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