Gene: BLM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. 21815139

2012
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. 9482582

1998
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. 10090915

1999
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. 15726604

2005
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. 23225144

2013
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR The Bloom's syndrome gene product is homologous to RecQ helicases. 7585968

1995
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR Heterozygosity for the BLM(Ash) mutation and cancer risk. 12702560

2003
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR A common nonsense mutation of the BLM gene and prostate cancer risk and survival. 24096176

2013
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155

2007
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. 9837821

1998
dbSNP: rs113993962
rs113993962
BLM
TAGATTC 0.700 CausalMutation CLINVAR BLM heterozygosity and the risk of colorectal cancer. 12242432

2002
dbSNP: rs148969222
rs148969222
BLM
T 0.700 GeneticVariation CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792

2014
dbSNP: rs148969222
rs148969222
BLM
T 0.700 GeneticVariation CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404

2015
dbSNP: rs1555419889
rs1555419889
BLM
C 0.700 CausalMutation CLINVAR

dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. 21815139

2012
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404

2015
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia. 25410042

2014
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR A common nonsense mutation of the BLM gene and prostate cancer risk and survival. 24096176

2013
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949

2016
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population. 25399228

2014
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. 23225144

2013
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. 25182961

2015
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. 23552953

2013
dbSNP: rs200389141
rs200389141
BLM
T 0.700 CausalMutation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155

2007