rs387906758, STAT1

N. diseases: 6
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.
CANDIDIASIS, FAMILIAL, 7
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
20 0.851 0.080 2 190995185 missense variant G/A;C snv 0.800 1.000 12 2011 2017
IMMUNODEFICIENCY 31A
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
12 0.851 0.080 2 190995185 missense variant G/A;C snv 0.700 1.000 9 2011 2017
IMMUNODEFICIENCY 31B
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
16 0.851 0.080 2 190995185 missense variant G/A;C snv 0.700 1.000 9 2011 2017
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
13 0.851 0.080 2 190995185 missense variant G/A;C snv 0.010 1.000 1 2019 2019
Herpes Simplex Infections
CUI: C0019348
Disease: Herpes Simplex Infections
11 0.851 0.080 2 190995185 missense variant G/A;C snv 0.010 1 2019 2019
Herpesviridae Infections
CUI: C0019372
Disease: Herpesviridae Infections
3 0.851 0.080 2 190995185 missense variant G/A;C snv 0.010 1.000 1 2019 2019