rs267607042, 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.
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 2 2013 2013
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 1 2013 2013
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 1 2013 2013
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
8 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 4 2010 2017
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
8 0.851 0.320 18 44951942 missense variant G/A;C snv 0.800 1.000 4 2010 2017