{{Rsnum
|rsid=1050565
|Gene=BLMH
|Chromosome=17
|position=30249058
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2736
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=BLMH
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 44.2 | 47.8 | 8.0
| HCB | 76.6 | 20.4 | 2.9
| JPT | 64.6 | 26.5 | 8.8
| YRI | 72.8 | 23.1 | 4.1
| ASW | 64.9 | 33.3 | 1.8
| CHB | 76.6 | 20.4 | 2.9
| CHD | 80.7 | 17.4 | 1.8
| GIH | 60.4 | 34.7 | 5.0
| LWK | 51.8 | 36.4 | 11.8
| MEX | 48.3 | 43.1 | 8.6
| MKK | 44.9 | 42.9 | 12.2
| TSI | 47.1 | 48.0 | 4.9
| HapMapRevision=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}}

{{PharmGKB
|RSID=rs1050565
|Name_s=BLMH:A1450G
|Gene_s=BLMH
|Feature=
|Evidence=PubMed ID:18398146
|Annotation=Testicular germ cell cancer patients carrying the homozygous G/G allele of this variant showed reduced survival and higher prevalence of early relapses after treatment with bleomycin-containing chemotherapy.
|Drugs=bleomycin
|Drug Classes=
|Diseases=Testicular Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA162171855
}}

{{omim
|id=602403
|rsnum=1050565
|variant=0001
}}

{{ClinVar
|rsid=1050565
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=28576076
|CHROM=17
|GMAF=0.2738
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05036800000015051f110100
|GENEINFO=BLMH:642
|GENE_NAME=BLMH
|GENE_ID=642
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.28576076T>C
|CLNORIGIN=1
|CLNSIG=2
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7264; 0.2736
|CLNACC=RCV000007670.1
|CLNDBN=BLEOMYCIN HYDROLASE POLYMORPHISM
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=602403.0001
|COMMON=1
|Disease=BLEOMYCIN HYDROLASE POLYMORPHISM
}}

{{PMID Auto
|PMID=15995945
|Title=Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.
|OA=1
}}

{{PMID Auto
|PMID=19673036
|Title=Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population.
|OA=1
}}

{{GET Evidence
|gene=BLMH
|aa_change=Ile443Val
|aa_change_short=I443V
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1050565
|overall_frequency_n=3065
|overall_frequency_d=10758
|overall_frequency=0.284904
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=28
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=2
|qualitycomment_in_vitro=Y
|qualityscore_case_control=!
|qualitycomment_case_control=Y
|qualityscore_familial=0
|in_omim=Y
|nblosum100=-4
|autoscore=2
|webscore=N
|summary_short=The exact function of BLMH, a cysteine protease of the papain superfamily, is unknown, but has been associated with increased risk of Alzheimer’s Disease (AD) in non-APOE4 individuals through a homozygous A->G nucleotide exchange. This variant increases the release of the proteolytic fragment, β-amyloid, in amyloid precursor proteins, which is a key event in the pathogenesis of AD. Case control studies studying the 1443V variant reported median prevalence for the A/A + A/G genotypes was 0.86. Increased AD risk with common G/G genotype was seen through higher frequency of the G/G phenotype among AD patients compared with control subjects. Increased risk for AD in individuals homozygous for the G allele confined it to non-APOE4 individuals. Although studies have found contradictory results, the potential important of this variant places it as a novel target for HD therapeutics.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}