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: rs1554904006
rs1554904006
ABCC8
1 1.000 0.120 11 17394264 splice donor variant A/C snv 0.700 0
dbSNP: rs1554904102
rs1554904102
ABCC8
1 1.000 0.120 11 17394361 missense variant C/T snv 0.700 0
dbSNP: rs1554904554
rs1554904554
ABCC8
1 1.000 0.120 11 17395221 frameshift variant AGGGCCTCCCACAGTGTGCTATC/- delins 0.700 0
dbSNP: rs1554904904
rs1554904904
ABCC8
1 1.000 0.120 11 17395626 splice acceptor variant AGGACGGGGTCCTGCAG/- delins 0.700 0
dbSNP: rs1554905662
rs1554905662
ABCC8
1 1.000 0.120 11 17396926 missense variant G/A snv 0.700 0
dbSNP: rs1554905787
rs1554905787
ABCC8
1 1.000 0.120 11 17397008 frameshift variant -/G ins 0.700 0
dbSNP: rs1554906449
rs1554906449
ABCC8
1 1.000 0.120 11 17397798 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554906450
rs1554906450
ABCC8
1 1.000 0.120 11 17397799 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554910610
rs1554910610
ABCC8
1 1.000 0.120 11 17404511 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1554910616
rs1554910616
ABCC8
1 1.000 0.120 11 17404511 splice donor variant C/- delins 0.700 0
dbSNP: rs1554910621
rs1554910621
ABCC8
1 1.000 0.120 11 17404511 frameshift variant -/TGGAC delins 0.700 0
dbSNP: rs1554911369
rs1554911369
ABCC8
1 1.000 0.120 11 17405493 splice donor variant C/T snv 0.700 0
dbSNP: rs1554912381
rs1554912381
ABCC8
1 1.000 0.120 11 17406873 splice donor variant GCCGCCAGTCACACCTGGCTGAGGGAG/- delins 0.700 0
dbSNP: rs1554917411
rs1554917411
ABCC8
1 1.000 0.120 11 17414595 frameshift variant CACGGGGCCTCTC/TT delins 0.700 0
dbSNP: rs1554924142
rs1554924142
ABCC8
1 1.000 0.120 11 17427128 missense variant C/T snv 0.700 0
dbSNP: rs1554924630
rs1554924630
ABCC8
1 1.000 0.120 11 17427943 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554926465
rs1554926465
ABCC8
1 1.000 0.120 11 17430808 splice region variant CTCAC/- delins 0.700 0
dbSNP: rs1554926476
rs1554926476
ABCC8
1 1.000 0.120 11 17430813 splice donor variant C/A snv 0.700 0
dbSNP: rs1554926539
rs1554926539
ABCC8
1 1.000 0.120 11 17430879 frameshift variant A/- del 0.700 0
dbSNP: rs1554933415
rs1554933415
ABCC8
1 1.000 0.120 11 17443177 splice donor variant C/A snv 0.700 0
dbSNP: rs1554946437
rs1554946437
ABCC8
1 1.000 0.120 11 17470142 frameshift variant -/AG delins 0.700 0
dbSNP: rs1554948310
rs1554948310
ABCC8
5 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0
dbSNP: rs1554949176
rs1554949176
ABCC8
1 1.000 0.120 11 17476627 splice donor variant A/C snv 0.700 0
dbSNP: rs1564905676
rs1564905676
ABCC8
1 1.000 0.120 11 17414611 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1564977373
rs1564977373
ABCC8
2 0.925 0.120 11 17461710 stop gained C/T snv 0.700 0