BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
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: rs1063147
rs1063147
0.807 0.120 15 90811275 synonymous variant C/T snv 0.15
CUI: C0001857
Disease: AIDS related complex
AIDS related complex
Infections; Immune System Diseases 0.020 1.000 2 2013 2019