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: rs121909744
rs121909744
SLC2A2
1 1.000 0.120 3 170998317 missense variant G/A;C snv 1.2E-05 0.800 1.000 2 1999 2000
dbSNP: rs121909747
rs121909747
SLC2A2
2 0.925 0.160 3 170999069 missense variant A/C;G snv 0.800 1.000 2 1999 2000
dbSNP: rs28928874
rs28928874
SLC2A2
2 0.925 0.160 3 170998299 missense variant A/T snv 0.800 1.000 2 1999 2000
dbSNP: rs121909743
rs121909743
SLC2A2
1 1.000 0.120 3 171005347 stop gained G/A snv 4.0E-06; 4.0E-06 3.5E-05 0.700 1.000 4 2002 2016
dbSNP: rs1560033414
rs1560033414
SLC2A2
1 1.000 0.120 3 171002673 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1114167428
rs1114167428
SLC2A2
1 1.000 0.120 3 171006093 stop gained C/A snv 0.700 0
dbSNP: rs121909742
rs121909742
SLC2A2
1 1.000 0.120 3 170999142 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs121909745
rs121909745
SLC2A2
1 1.000 0.120 3 170998308 stop gained C/T snv 0.700 0
dbSNP: rs121909746
rs121909746
SLC2A2
1 1.000 0.120 3 171005389 stop gained G/A snv 0.700 0
dbSNP: rs1553784980
rs1553784980
SLC2A2
1 1.000 0.120 3 170998208 frameshift variant CA/- delins 0.700 0
dbSNP: rs1553785033
rs1553785033
SLC2A2
6 0.882 0.120 3 170998321 missense variant C/T snv 0.700 0
dbSNP: rs1553785722
rs1553785722
SLC2A2
1 1.000 0.120 3 171002600 frameshift variant -/A delins 0.700 0
dbSNP: rs1553786361
rs1553786361
SLC2A2
1 1.000 0.120 3 171006106 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1560035336
rs1560035336
SLC2A2
1 1.000 0.120 3 171006007 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs769888108
rs769888108
SLC2A2
1 1.000 0.120 3 171014601 frameshift variant G/- delins 7.7E-05 0.700 0
dbSNP: rs563539429
rs563539429
AGPAT2
5 0.851 0.240 9 136677540 missense variant C/A;G;T snv 4.1E-06; 8.1E-06; 1.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs587783668
rs587783668
KCNJ11
4 0.882 0.240 11 17387629 missense variant C/T snv 1.2E-05 0.010 1.000 1 2013 2013