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: rs1562715574
rs1562715574
GCK ; LOC105375258
2 0.925 0.080 7 44147795 missense variant T/C snv 0.700 1.000 2 2008 2015
dbSNP: rs104894006
rs104894006
GCK ; LOC105375258
2 0.925 0.040 7 44149992 stop gained G/A;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs10515074
rs10515074
PIK3R1
2 0.925 0.120 5 68270365 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057524906
rs1057524906
GCK
2 0.925 0.080 7 44153387 missense variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs1385251852
rs1385251852
HNF4A ; MIR3646
2 0.925 0.080 20 44406208 frameshift variant G/- delins 0.700 1.000 1 2013 2013
dbSNP: rs193922262
rs193922262
GCK
2 0.925 0.080 7 44145636 stop gained C/A;G snv 4.3E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs193922287
rs193922287
GCK
2 0.925 0.080 7 44153334 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs373269573
rs373269573
EHMT1
2 0.925 0.080 9 137711015 missense variant G/A snv 1.6E-04 9.1E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs3738435
rs3738435
CHRM3
2 0.925 0.080 1 239907303 intron variant T/C snv 0.23 0.010 < 0.001 1 2011 2011
dbSNP: rs397514580
rs397514580
GCK ; LOC105375258
2 0.925 0.080 7 44146467 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs534828104
rs534828104
AHSG
2 0.925 0.080 3 186618566 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs556581174
rs556581174
GCK
2 0.925 0.080 7 44145637 stop gained G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs751279776
rs751279776
GCK ; LOC105375258
2 0.925 0.080 7 44149986 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs764437500
rs764437500
EHMT1
2 0.925 0.080 9 137716697 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs8066560
rs8066560
SREBF1
2 0.925 0.040 17 17824729 intron variant A/G snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs9906827
rs9906827
RPTOR
2 0.925 0.120 17 80691605 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1064793998
rs1064793998
GCK
3 0.882 0.080 7 44153325 missense variant C/T snv 0.720 1.000 8 1998 2016
dbSNP: rs1057524905
rs1057524905
GCK ; LOC105375258
3 0.882 0.080 7 44147834 splice acceptor variant C/T snv 0.700 1.000 4 2003 2009
dbSNP: rs369841551
rs369841551
MC4R
3 0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06 0.700 1.000 4 1999 2017
dbSNP: rs1057524902
rs1057524902
GCK
3 0.882 0.080 7 44145495 splice donor variant A/T snv 0.700 1.000 3 2003 2009
dbSNP: rs1057524904
rs1057524904
GCK ; LOC105375258
3 0.882 0.080 7 44147765 missense variant G/A snv 0.700 1.000 3 2007 2009
dbSNP: rs1446306735
rs1446306735
ABCC8
3 0.882 0.120 11 17395664 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs164147
rs164147
NOS1AP
3 0.882 0.080 1 162368607 3 prime UTR variant A/C snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs193922289
rs193922289
GCK
3 0.882 0.080 7 44152420 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs193929375
rs193929375
GCK
3 0.882 0.120 7 44145560 missense variant C/A snv 0.010 1.000 1 2005 2005