BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148969222
rs148969222
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404 2015
dbSNP: rs148969222
rs148969222
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792 2014