BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: ovarian neoplasm ×
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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2015 2015