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: rs1221760584
rs1221760584
ABCC8
1 1.000 0.120 11 17393088 missense variant A/T snv 4.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs137852676
rs137852676
ABCC8
3 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 0.700 1.000 20 1996 2015
dbSNP: rs1420601296
rs1420601296
ABCC8
1 1.000 0.120 11 17442866 missense variant C/T snv 4.0E-06 3.5E-05 0.700 1.000 20 1996 2015
dbSNP: rs1554904565
rs1554904565
ABCC8
1 1.000 0.120 11 17395234 missense variant A/G snv 0.700 1.000 20 1996 2015
dbSNP: rs201351976
rs201351976
ABCC8
1 1.000 0.120 11 17404656 missense variant G/A snv 3.3E-05 8.4E-05 0.700 1.000 20 1996 2015
dbSNP: rs367850779
rs367850779
ABCC8
2 0.925 0.120 11 17402670 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs542157938
rs542157938
ABCC8
1 1.000 0.120 11 17397296 missense variant G/A;T snv 4.4E-05 0.700 1.000 20 1996 2015
dbSNP: rs58241708
rs58241708
ABCC8
1 1.000 0.120 11 17428630 missense variant G/A snv 6.9E-04 2.7E-03 0.700 1.000 20 1996 2015
dbSNP: rs67254669
rs67254669
ABCC8
1 1.000 0.120 11 17448596 missense variant A/G snv 6.9E-04 7.2E-04 0.700 1.000 20 1996 2015
dbSNP: rs72559717
rs72559717
ABCC8
1 1.000 0.120 11 17395214 missense variant C/T snv 7.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs72559718
rs72559718
ABCC8
1 1.000 0.120 11 17395893 missense variant G/A snv 7.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs72559721
rs72559721
ABCC8
1 1.000 0.120 11 17407407 missense variant G/A snv 0.700 1.000 20 1996 2015
dbSNP: rs72559726
rs72559726
ABCC8
1 1.000 0.120 11 17430858 missense variant G/C snv 0.700 1.000 20 1996 2015
dbSNP: rs72559727
rs72559727
ABCC8
1 1.000 0.120 11 17442827 missense variant A/G snv 0.700 1.000 20 1996 2015
dbSNP: rs72559728
rs72559728
ABCC8
1 1.000 0.120 11 17448632 missense variant T/C snv 0.700 1.000 20 1996 2015
dbSNP: rs72559731
rs72559731
ABCC8
1 1.000 0.120 11 17470167 missense variant C/G snv 0.700 1.000 20 1996 2015
dbSNP: rs761862121
rs761862121
ABCC8
1 1.000 0.120 11 17410544 missense variant T/G snv 1.6E-05 2.1E-05 0.700 1.000 20 1996 2015
dbSNP: rs769279368
rs769279368
ABCC8
2 0.925 0.120 11 17395872 missense variant C/A;T snv 3.9E-05 0.700 1.000 20 1996 2015
dbSNP: rs769569410
rs769569410
ABCC8
1 1.000 0.120 11 17460571 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs773448052
rs773448052
ABCC8
1 1.000 0.120 11 17395909 missense variant C/T snv 9.8E-06 0.700 1.000 20 1996 2015
dbSNP: rs781059815
rs781059815
ABCC8
1 1.000 0.120 11 17476758 missense variant C/G;T snv 5.0E-06; 5.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs151344623
rs151344623
ABCC8
3 0.882 0.120 11 17397055 missense variant C/G;T snv 3.3E-04 0.700 1.000 16 1995 2014
dbSNP: rs151344624
rs151344624
ABCC8
2 0.925 0.120 11 17395888 inframe deletion AAG/- delins 0.700 1.000 8 1996 2011
dbSNP: rs746480424
rs746480424
ABCC8
1 1.000 0.120 11 17394333 missense variant C/A;T snv 8.0E-06 0.700 1.000 6 2003 2016
dbSNP: rs746714109
rs746714109
ABCC8
1 1.000 0.120 11 17427963 non coding transcript exon variant C/T snv 2.0E-05 3.5E-05 0.700 1.000 6 2005 2016