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: rs28938469
rs28938469
ABCC8
3 0.925 0.160 11 17395659 missense variant G/A snv 0.800 1.000 27 1996 2015
dbSNP: rs72559715
rs72559715
ABCC8
5 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.800 1.000 25 1996 2015
dbSNP: rs1554933168
rs1554933168
ABCC8
1 1.000 0.120 11 17442842 missense variant A/G snv 0.800 1.000 24 1996 2015
dbSNP: rs1446306735
rs1446306735
ABCC8
3 0.882 0.120 11 17395664 missense variant C/A;T snv 0.800 1.000 23 1996 2015
dbSNP: rs137852671
rs137852671
ABCC8
10 0.790 0.160 11 17394295 missense variant C/T snv 0.800 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: rs387906407
rs387906407
ABCC8
2 0.925 0.120 11 17395610 missense variant C/G;T snv 0.800 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: rs72559723
rs72559723
ABCC8
1 1.000 0.120 11 17427124 missense variant C/A;T snv 0.800 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: rs151344624
rs151344624
ABCC8
2 0.925 0.120 11 17395888 inframe deletion AAG/- delins 0.700 1.000 8 1996 2011
dbSNP: rs797045213
rs797045213
ABCC8
1 1.000 0.120 11 17463454 missense variant T/C snv 0.800 1.000 7 1998 2016
dbSNP: rs1057516281
rs1057516281
ABCC8
2 0.925 0.120 11 17398344 stop gained G/A snv 1.4E-05 0.700 1.000 5 2006 2014
dbSNP: rs863225280
rs863225280
ABCC8
2 0.925 0.120 11 17461722 missense variant C/T snv 0.700 1.000 5 2005 2013
dbSNP: rs764613146
rs764613146
ABCC8
1 1.000 0.120 11 17428609 frameshift variant G/-;GG delins 0.700 1.000 4 2013 2014
dbSNP: rs1057516317
rs1057516317
ABCC8
2 0.925 0.120 11 17402737 frameshift variant C/- delins 2.1E-05 0.700 1.000 3 2004 2008
dbSNP: rs1564955779
rs1564955779
ABCC8
1 1.000 0.120 11 17448605 missense variant C/T snv 0.700 1.000 3 1998 2013
dbSNP: rs587783169
rs587783169
ABCC8
1 1.000 0.120 11 17404560 frameshift variant A/- del 0.700 1.000 3 2013 2014
dbSNP: rs770664202
rs770664202
ABCC8
1 1.000 0.120 11 17463478 frameshift variant CCAT/- del 0.700 1.000 3 2006 2007
dbSNP: rs1057516718
rs1057516718
ABCC8
1 1.000 0.120 11 17397014 stop gained G/A snv 0.700 1.000 2 2013 2014