rs2072671, CDA

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.
Finding of Mean Corpuscular Hemoglobin
1206 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.700 1.000 1 2019 2019
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
1599 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.700 1.000 1 2019 2019
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.050 0.800 5 2010 2019
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2009 2015
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2012 2019
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2012 2019
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
22 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2015 2015
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2010 2010
Anemia, severe
CUI: C0238644
Disease: Anemia, severe
6 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1 2015 2015
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
14 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2012 2012
Cholangiocarcinoma
CUI: C0206698
Disease: Cholangiocarcinoma
43 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2019 2019
Congenital dyserythropoietic anemia
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
13 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2012 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2015 2015
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2013 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2015 2015
Xeroderma Pigmentosum, Complementation Group D
111 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2014 2014