Gene: ABCC8 ×
Source: CLINVAR ×
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: 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 11 1996 2015
dbSNP: rs28938469
rs28938469
ABCC8
1 0.925 0.160 11 17395659 missense variant G/A snv 0.800 1.000 10 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 9 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 9 1996 2018
dbSNP: rs797045213
rs797045213
ABCC8
1 1.000 0.120 11 17463454 missense variant T/C snv 0.800 1.000 7 1998 2016
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 6 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 6 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 6 1996 2016
dbSNP: rs1446306735
rs1446306735
ABCC8
1 0.882 0.120 11 17395664 missense variant C/A;T snv 0.800 1.000 5 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 5 1996 2017
dbSNP: rs1554933168
rs1554933168
ABCC8
1 1.000 0.120 11 17442842 missense variant A/G snv 0.800 1.000 4 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 4 1996 2015
dbSNP: rs137852671
rs137852671
ABCC8
1 0.790 0.160 11 17394295 missense variant C/T snv 0.800 1.000 0 1996 2015
dbSNP: rs137852672
rs137852672
ABCC8
1 0.925 0.120 11 17463457 splice donor variant A/T snv 1.5E-04 2.2E-04 0.800 1.000 0 1996 2015
dbSNP: rs28936370
rs28936370
ABCC8
2 0.925 0.120 11 17396980 missense variant C/G;T snv 8.0E-06; 2.0E-05 0.800 1.000 0 1996 2015
dbSNP: rs28936371
rs28936371
ABCC8
2 0.925 0.120 11 17394334 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 0 1996 2015
dbSNP: rs387906407
rs387906407
ABCC8
1 0.925 0.120 11 17395610 missense variant C/G;T snv 0.800 1.000 0 1996 2015
dbSNP: rs72559713
rs72559713
ABCC8
2 0.925 0.120 11 17393109 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 0 1996 2015
dbSNP: rs72559723
rs72559723
ABCC8
1 1.000 0.120 11 17427124 missense variant C/A;T snv 0.800 1.000 0 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
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: rs751279984
rs751279984
ABCC8
1 1.000 0.120 11 17442774 missense variant G/A snv 1.6E-05 1.4E-05 0.700 1.000 5 2013 2016