rs267607040, SETBP1

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.
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
8 0.851 0.320 18 44951948 missense variant G/A snv 0.800 1.000 1 2010 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.851 0.320 18 44951948 missense variant G/A snv 0.700 1.000 2 2013 2013
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.851 0.320 18 44951948 missense variant G/A snv 0.700 1.000 2 2013 2013
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.851 0.320 18 44951948 missense variant G/A snv 0.700 1.000 2 2013 2014
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
5 0.851 0.320 18 44951948 missense variant G/A snv 0.020 1.000 2 2013 2020