rs78478128, G6PD

N. diseases: 7
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.
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
CUI: C2720289
Disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
54 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.800 1.000 21 1988 2019
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002
Deficiency of glucose-6-phosphate dehydrogenase
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
20 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 1995 1995
Favism
CUI: C0015702
Disease: Favism
14 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002