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: rs267607042
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.800 1.000 1 2010 2017
dbSNP: rs267607042
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 1.000 2 2013 2013
dbSNP: rs267607042
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 1.000 1 2013 2013
dbSNP: rs267607042
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 1 2013 2013