rs587777630, STAT1

N. diseases: 16
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 0.716 0.440 2 190986921 missense variant G/A snv 0.800 1.000 10 2011 2017
IMMUNODEFICIENCY 31A
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
12 0.716 0.440 2 190986921 missense variant G/A snv 0.700 1.000 6 2012 2017
IMMUNODEFICIENCY 31B
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
16 0.716 0.440 2 190986921 missense variant G/A snv 0.700 1.000 6 2012 2017
Bronchiectasis
CUI: C0006267
Disease: Bronchiectasis
15 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Chronic diarrhea
CUI: C0401151
Disease: Chronic diarrhea
9 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Chronic oral candidiasis
CUI: C4024599
Disease: Chronic oral candidiasis
2 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Combined immunodeficiency
CUI: C0494261
Disease: Combined immunodeficiency
11 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Liver Abscess
CUI: C0023885
Disease: Liver Abscess
1 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Primary Hypothyroidism
CUI: C4316995
Disease: Primary Hypothyroidism
3 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Severe T-cell immunodeficiency
CUI: C4025208
Disease: Severe T-cell immunodeficiency
2 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
13 0.716 0.440 2 190986921 missense variant G/A snv 0.010 1.000 1 2012 2012