Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607040
rs267607040
SETBP1
0.851 0.320 18 44951948 missense variant G/A snv
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.800 1.000 1 2010 2010
dbSNP: rs267607040
rs267607040
SETBP1
0.851 0.320 18 44951948 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 2 2013 2014
dbSNP: rs267607040
rs267607040
SETBP1
0.851 0.320 18 44951948 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 2 2013 2013
dbSNP: rs267607040
rs267607040
SETBP1
0.851 0.320 18 44951948 missense variant G/A snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 1.000 2 2013 2013