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: 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 1 2004 2004
dbSNP: rs1554948310
rs1554948310
ABCC8
5 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0
dbSNP: rs193922402
rs193922402
ABCC8
6 0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06 0.700 0
dbSNP: rs72559715
rs72559715
ABCC8
5 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs72559722
rs72559722
ABCC8
6 0.807 0.160 11 17412716 stop gained G/A snv 6.1E-05 2.1E-05 0.700 0
dbSNP: rs72559734
rs72559734
ABCC8
6 0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0