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: rs7980288
rs7980288
0.925 0.040 12 9102864 intron variant T/C snv 1.4E-02
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs7980288
rs7980288
0.925 0.040 12 9102864 intron variant T/C snv 1.4E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs669
rs669
0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
0.700 0
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
dbSNP: rs3832852
rs3832852
0.925 0.080 12 9093581 splice acceptor variant ATGGT/- delins
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs669
rs669
0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0338460
Disease: Argyrophilic grain disease
Argyrophilic grain disease
0.010 1.000 1 2002 2002
dbSNP: rs669
rs669
0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
Behavior and Behavior Mechanisms 0.010 1.000 1 2000 2000
dbSNP: rs669
rs669
0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs669
rs669
0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs669
rs669
0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0004936
Disease: Mental disorders
Mental disorders
Mental Disorders 0.010 1.000 1 2000 2000