Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906813
rs387906813
GATA6
3 0.882 0.080 18 22181546 missense variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs387906817
rs387906817
GATA6
1 1.000 18 22181504 missense variant A/G snv 0.800 1.000 1 2011 2011
dbSNP: rs387906818
rs387906818
GATA6
3 0.882 0.120 18 22181516 missense variant C/T snv 0.800 1.000 1 2011 2011
dbSNP: rs387906819
rs387906819
GATA6
6 0.882 0.120 18 22181517 missense variant G/A snv 0.800 1.000 1 2011 2011
dbSNP: rs387906820
rs387906820
GATA6
1 1.000 18 22181549 missense variant G/A snv 0.800 1.000 1 2011 2011
dbSNP: rs1555628863
rs1555628863
GATA6
3 0.925 0.080 18 22172215 frameshift variant G/- delins 0.700 0
dbSNP: rs587776872
rs587776872
GATA6
1 1.000 18 22182775 frameshift variant TGAAAAAA/- delins 0.700 0
dbSNP: rs587776936
rs587776936
GATA6
1 1.000 18 22182831 frameshift variant AA/- delins 0.700 0
dbSNP: rs587777710
rs587777710
GATA6
8 0.807 0.160 18 22171856 stop gained G/T snv 0.700 0
dbSNP: rs797045593
rs797045593
GATA6
1 1.000 18 22172231 stop gained C/T snv 0.700 0