A2M, alpha-2-macroglobulin, 2

N. diseases: 147; N. variants: 3
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: rs669
rs669
0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.070 0.714 7 1999 2014
dbSNP: rs3832852
rs3832852
0.925 0.080 12 9093581 splice acceptor variant ATGGT/- delins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014