rs145360423, NCF1

N. diseases: 3
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.
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
CUI: C3151409
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
2 0.925 0.120 7 74783529 stop gained G/A snv 6.9E-04 5.3E-04 0.700 1.000 1 2015 2015
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
8 0.925 0.120 7 74783529 stop gained G/A snv 6.9E-04 5.3E-04 0.700 0
Chronic granulomatous disease
CUI: C0018203
Disease: Chronic granulomatous disease
23 0.925 0.120 7 74783529 stop gained G/A snv 6.9E-04 5.3E-04 0.030 1.000 3 2018 2018