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: rs371769427
rs371769427
U2AF1
0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.850 1.000 0 2013 2019
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.820 1.000 1 2011 2012
dbSNP: rs371246226
rs371246226
U2AF1
0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.710 1.000 2 2011 2015
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
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