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: rs10139403
rs10139403
1 1.000 0.040 14 100728224 intron variant A/G snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs1018185646
rs1018185646
1 1.000 0.040 20 44428455 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1410713
rs1410713
1 1.000 0.040 20 3079704 downstream gene variant A/C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs1447680989
rs1447680989
1 1.000 0.040 2 27501147 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2282018
rs2282018
AVP
1 1.000 0.040 20 3084303 intron variant C/T snv 0.60 0.010 1.000 1 2016 2016
dbSNP: rs2770381
rs2770381
1 1.000 0.040 20 3081340 downstream gene variant A/C snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs6084264
rs6084264
AVP
1 1.000 0.040 20 3089925 upstream gene variant T/C snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs746913146
rs746913146
1 1.000 0.040 7 44149816 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs750931344
rs750931344
1 1.000 0.040 12 46769424 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs755498926
rs755498926
GCK
1 1.000 0.040 7 44145228 missense variant T/C snv 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs775776658
rs775776658
1 1.000 0.040 11 17474926 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs1085307455
rs1085307455
2 0.925 0.080 7 44149977 missense variant G/A;T snv 8.0E-06 0.700 1.000 12 2000 2012
dbSNP: rs776793516
rs776793516
2 0.925 0.080 12 120997492 frameshift variant CA/- delins 4.0E-06 0.700 1.000 7 1997 2014
dbSNP: rs1375557127
rs1375557127
2 0.925 0.080 20 44424123 missense variant G/A snv 4.0E-06 0.700 1.000 6 2000 2016
dbSNP: rs1057524900
rs1057524900
GCK
2 0.925 0.080 7 44145173 missense variant G/A;T snv 4.2E-06 0.700 1.000 5 2003 2012
dbSNP: rs1057524907
rs1057524907
2 0.925 0.080 11 2159907 missense variant T/C snv 0.700 1.000 5 2007 2015
dbSNP: rs1564911425
rs1564911425
2 0.925 0.080 11 2159895 missense variant G/C snv 0.700 1.000 5 2007 2015
dbSNP: rs1057524908
rs1057524908
2 0.925 0.080 12 120993686 frameshift variant -/C delins 0.700 1.000 4 2000 2013
dbSNP: rs1392795567
rs1392795567
2 0.925 0.080 20 44414663 splice donor variant G/A snv 0.700 1.000 4 1977 2013
dbSNP: rs1564865302
rs1564865302
2 0.925 0.040 11 17387395 missense variant G/A snv 0.700 1.000 4 2011 2016
dbSNP: rs1568724014
rs1568724014
2 0.925 0.080 20 44407421 stop gained C/T snv 0.700 1.000 4 2000 2013
dbSNP: rs1057524901
rs1057524901
GCK
2 0.925 0.080 7 44145190 frameshift variant G/- del 0.700 1.000 3 2003 2009
dbSNP: rs1057524903
rs1057524903
2 0.925 0.080 7 44146466 missense variant T/C snv 0.700 1.000 3 2006 2011
dbSNP: rs1064794268
rs1064794268
GCK
2 0.925 0.080 7 44153396 missense variant T/G snv 0.700 1.000 3 2000 2014
dbSNP: rs1565886545
rs1565886545
2 0.925 0.080 12 120996261 splice acceptor variant G/A;C snv 0.700 1.000 3 2009 2013