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: rs572115942
rs572115942
PHKG2
7 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
dbSNP: rs953686324
rs953686324
CLCNKB
7 0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 0.700 0
dbSNP: rs1392795567
rs1392795567
HNF4A
2 0.925 0.080 20 44414663 splice donor variant G/A snv 0.700 1.000 4 1977 2013
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: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 1.000 12 1991 2013
dbSNP: rs776793516
rs776793516
HNF1A
2 0.925 0.080 12 120997492 frameshift variant CA/- delins 4.0E-06 0.700 1.000 7 1997 2014
dbSNP: rs137853238
rs137853238
HNF1A
6 0.807 0.200 12 120994265 missense variant G/A snv 0.700 1.000 6 1997 2009
dbSNP: rs1064793998
rs1064793998
GCK
3 0.882 0.080 7 44153325 missense variant C/T snv 0.720 1.000 8 1998 2016
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: rs1085307455
rs1085307455
GCK ; LOC105375258
2 0.925 0.080 7 44149977 missense variant G/A;T snv 8.0E-06 0.700 1.000 12 2000 2012
dbSNP: rs1375557127
rs1375557127
HNF4A
2 0.925 0.080 20 44424123 missense variant G/A snv 4.0E-06 0.700 1.000 6 2000 2016
dbSNP: rs1057524908
rs1057524908
HNF1A
2 0.925 0.080 12 120993686 frameshift variant -/C delins 0.700 1.000 4 2000 2013
dbSNP: rs1568724014
rs1568724014
HNF4A ; MIR3646
2 0.925 0.080 20 44407421 stop gained C/T snv 0.700 1.000 4 2000 2013
dbSNP: rs1064794268
rs1064794268
GCK
2 0.925 0.080 7 44153396 missense variant T/G snv 0.700 1.000 3 2000 2014
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: rs193922331
rs193922331
GCK ; LOC105375258
4 0.882 0.080 7 44147726 missense variant A/G snv 7.0E-06 0.700 1.000 3 2002 2012
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: 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: 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: 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: 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: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs137853240
rs137853240
HNF1A
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs193929375
rs193929375
GCK
3 0.882 0.120 7 44145560 missense variant C/A snv 0.010 1.000 1 2005 2005