BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200389141
rs200389141 		0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 2007 2016