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: rs56199535
rs56199535
ABCC2
1 1.000 0.080 10 99818820 missense variant C/A;G;T snv 8.8E-05 0.810 1.000 9 1998 2014
dbSNP: rs72558200
rs72558200
ABCC2
1 1.000 0.080 10 99836125 missense variant G/A snv 9.1E-05 8.4E-05 0.810 1.000 9 1998 2014
dbSNP: rs72558201
rs72558201
ABCC2
1 1.000 0.080 10 99836193 missense variant A/G;T snv 4.0E-06; 3.6E-05 0.810 1.000 9 1998 2014
dbSNP: rs72558202
rs72558202
ABCC2
1 1.000 0.080 10 99845781 missense variant A/G snv 7.0E-06 0.810 1.000 9 1998 2014
dbSNP: rs72558199
rs72558199
ABCC2
1 1.000 0.080 10 99832069 stop gained C/T snv 4.2E-04 5.2E-04 0.700 1.000 2 1997 2010
dbSNP: rs34937870
rs34937870
ABCC2
1 1.000 0.080 10 99842094 splice donor variant G/A;T snv 1.2E-05; 4.8E-05 0.700 0
dbSNP: rs387906395
rs387906395
ABCC2
1 1.000 0.080 10 99808231 splice donor variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs387906396
rs387906396
ABCC2
1 1.000 0.080 10 99811604 splice donor variant T/C snv 1.4E-05 0.700 0
dbSNP: rs762914474
rs762914474
ABCC2
1 1.000 0.080 10 99834519 frameshift variant TT/- delins 4.0E-06 0.700 0
dbSNP: rs864309675
rs864309675
ABCC2
1 1.000 0.080 10 99799350 frameshift variant TG/- delins 0.700 0
dbSNP: rs1226153645
rs1226153645
ABCC2
1 1.000 0.080 10 99813076 missense variant G/C snv 0.010 1.000 1 2003 2003
dbSNP: rs371866713
rs371866713
ABCC2
1 1.000 0.080 10 99799313 stop gained C/A;G snv 4.0E-06; 2.8E-05 1.0E-04 0.010 1.000 1 2006 2006