Gene: ABCC8 ×
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: rs757110
rs757110
ABCC8
6 0.851 0.080 11 17396930 missense variant C/A;T snv 0.64; 8.0E-06 0.790 0.900 10 1997 2018
dbSNP: rs137852673
rs137852673
ABCC8
4 0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-05 0.700 0
dbSNP: rs137852674
rs137852674
ABCC8
2 0.925 0.120 11 17430887 missense variant G/C snv 0.700 0
dbSNP: rs1554948310
rs1554948310
ABCC8
5 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0
dbSNP: rs193922402
rs193922402
ABCC8
6 0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06 0.700 0
dbSNP: rs72559715
rs72559715
ABCC8
5 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs72559722
rs72559722
ABCC8
6 0.807 0.160 11 17412716 stop gained G/A snv 6.1E-05 2.1E-05 0.700 0
dbSNP: rs72559734
rs72559734
ABCC8
6 0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs1272388614
rs1272388614
ABCC8
5 0.851 0.080 11 17395658 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1799854
rs1799854
ABCC8
3 0.925 0.080 11 17427157 splice region variant G/A snv 0.44 0.37 0.010 1.000 1 2006 2006
dbSNP: rs777986828
rs777986828
ABCC8
1 1.000 0.080 11 17428312 missense variant C/T snv 2.0E-05 9.8E-05 0.010 1.000 1 1998 1998