Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Platelet aggregation
CUI: C0032176
Disease: Platelet aggregation
11 0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81 0.700 1.000 1 2010 2010
Reticulocyte count (procedure)
CUI: C0206161
Disease: Reticulocyte count (procedure)
474 0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81 0.700 1.000 1 2016 2016
Miscarriage
CUI: C4552766
Disease: Miscarriage
56 0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81 0.010 1.000 1 2015 2015
SMALL PATELLA SYNDROME
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
15 0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81 0.010 1.000 1 2018 2018
Stiff-Person Syndrome
CUI: C0085292
Disease: Stiff-Person Syndrome
9 0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81 0.010 1.000 1 2018 2018