Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516700
rs1057516700
BLM
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
BLM
T 0.700 GeneticVariation CLINVAR Three new BLM gene mutations associated with Bloom syndrome. 18471088

2008