rs886043118, STAT1

N. diseases: 5
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.
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
IMMUNODEFICIENCY 31B
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
16 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
Lymphadenopathy
CUI: C0497156
Disease: Lymphadenopathy
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018