BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Bloom Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516700
rs1057516700
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1057516700
rs1057516700
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		T 0.700 GeneticVariation CLINVAR Three new BLM gene mutations associated with Bloom syndrome. 18471088 2008