Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 6 2011 2017
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 6 2012 2017
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 1.000 6 2012 2017
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0023885
Disease: Liver Abscess
Liver Abscess 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C4024599
Disease: Chronic oral candidiasis
Chronic oral candidiasis 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C4025208
Disease: Severe T-cell immunodeficiency
Severe T-cell immunodeficiency 		0.700 0