BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Bloom Syndrome ×
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: rs1060500652
rs1060500652 		1.000 0.120 15 90765413 splice donor variant GTAAGTTAT/- delins 7.0E-06
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 1 2007 2007