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: rs1554933565
rs1554933565
ABCC8
1 1.000 0.120 11 17443297 frameshift variant TC/- del 0.700 1.000 1 2006 2006
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
dbSNP: rs863225280
rs863225280
ABCC8
2 0.925 0.120 11 17461722 missense variant C/T snv 0.700 1.000 5 2005 2013
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: rs1554913069
rs1554913069
ABCC8
1 1.000 0.120 11 17407436 frameshift variant CTCT/- delins 0.700 1.000 2 2004 2013
dbSNP: rs1554924540
rs1554924540
ABCC8
1 1.000 0.120 11 17427866 splice donor variant C/A;T snv 0.700 1.000 1 2004 2004
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: rs886041392
rs886041392
ABCC8
1 1.000 0.120 11 17406901 frameshift variant TTCCTGGCTGCAGGGGTCAG/- delins 8.0E-06 7.0E-06 0.700 1.000 3 2001 2014
dbSNP: rs1411638309
rs1411638309
ABCC8
1 1.000 0.120 11 17393125 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs1554903370
rs1554903370
ABCC8
1 1.000 0.120 11 17393052 frameshift variant G/- delins 0.700 1.000 1 1999 1999
dbSNP: rs797045213
rs797045213
ABCC8
1 1.000 0.120 11 17463454 missense variant T/C snv 0.800 1.000 7 1998 2016
dbSNP: rs773306994
rs773306994
ABCC8
1 1.000 0.120 11 17442719 splice donor variant C/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 4 1998 2015
dbSNP: rs1564955779
rs1564955779
ABCC8
1 1.000 0.120 11 17448605 missense variant C/T snv 0.700 1.000 3 1998 2013
dbSNP: rs201682634
rs201682634
ABCC8
1 1.000 0.120 11 17474956 missense variant G/A snv 8.0E-06 1.4E-05 0.800 1.000 30 1996 2015
dbSNP: rs139964066
rs139964066
ABCC8
2 0.925 0.120 11 17402671 missense variant G/A snv 5.6E-05 3.5E-05 0.800 1.000 29 1996 2016
dbSNP: rs72559716
rs72559716
ABCC8
3 0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06 0.800 1.000 28 1996 2018
dbSNP: rs28938469
rs28938469
ABCC8
3 0.925 0.160 11 17395659 missense variant G/A snv 0.800 1.000 27 1996 2015
dbSNP: rs200670692
rs200670692
ABCC8
2 0.925 0.120 11 17476715 missense variant A/T snv 5.8E-05 3.5E-05 0.800 1.000 26 1996 2016
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: rs72559734
rs72559734
ABCC8
6 0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.800 1.000 25 1996 2016
dbSNP: rs1554933168
rs1554933168
ABCC8
1 1.000 0.120 11 17442842 missense variant A/G snv 0.800 1.000 24 1996 2015
dbSNP: rs372307320
rs372307320
ABCC8
1 1.000 0.120 11 17442849 missense variant C/T snv 4.0E-06 2.1E-05 0.800 1.000 24 1996 2017
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: rs761749884
rs761749884
ABCC8
1 1.000 0.120 11 17470182 missense variant C/T snv 8.0E-06 2.1E-05 0.800 1.000 23 1996 2015
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