rs371246226, U2AF1

N. diseases: 8
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.
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.710 1.000 2 2011 2015
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.700 1.000 2 2011 2012
de novo myelodysplastic syndromes
CUI: C0280451
Disease: de novo myelodysplastic syndromes
4 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.010 1.000 1 2015 2015
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
5 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.010 1.000 1 2020 2020
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
28 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.010 1.000 1 2013 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.010 1.000 1 2017 2017
Miller Dieker syndrome
CUI: C0265219
Disease: Miller Dieker syndrome
9 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.010 1.000 1 2015 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.010 1.000 1 2017 2017