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: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 12 1991 2013
dbSNP: rs137853238
rs137853238
HNF1A
6 0.807 0.200 12 120994265 missense variant G/A snv 0.700 1.000 6 1997 2009
dbSNP: rs764232985
rs764232985
GCK
4 0.851 0.080 7 44153381 missense variant C/G;T snv 4.0E-06 0.700 1.000 6 2002 2014
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
INS ; INS-IGF2
2 0.925 0.080 11 2159907 missense variant T/C snv 0.700 1.000 5 2007 2015
dbSNP: rs267607555
rs267607555
LMNA
6 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.700 1.000 5 1990 2013
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: rs1057524908
rs1057524908
HNF1A
2 0.925 0.080 12 120993686 frameshift variant -/C delins 0.700 1.000 4 2000 2013
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: rs1057524901
rs1057524901
GCK
2 0.925 0.080 7 44145190 frameshift variant G/- del 0.700 1.000 3 2003 2009
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: rs1057524903
rs1057524903
GCK ; LOC105375258
2 0.925 0.080 7 44146466 missense variant T/C snv 0.700 1.000 3 2006 2011
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: rs1057524896
rs1057524896
BSCL2 ; HNRNPUL2-BSCL2
1 1.000 0.080 11 62692798 splice acceptor variant C/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1057524906
rs1057524906
GCK
2 0.925 0.080 7 44153387 missense variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.020 1.000 2 2012 2014
dbSNP: rs121908260
rs121908260
INS ; INS-IGF2
4 0.851 0.160 11 2160835 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.010 1.000 1 2014 2014
dbSNP: rs137853336
rs137853336
HNF4A
5 0.851 0.080 20 44413714 missense variant C/G;T snv 4.0E-06; 8.0E-05 0.010 1.000 1 2016 2016