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: rs1064793998
rs1064793998
GCK
3 0.882 0.080 7 44153325 missense variant C/T snv 0.720 1.000 8 1998 2016
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.070 1.000 7 2006 2020
dbSNP: rs137853238
rs137853238
HNF1A
6 0.807 0.200 12 120994265 missense variant G/A snv 0.700 1.000 6 1997 2009
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: rs1564911425
rs1564911425
INS ; INS-IGF2
2 0.925 0.080 11 2159895 missense variant G/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: rs1392795567
rs1392795567
HNF4A
2 0.925 0.080 20 44414663 splice donor variant G/A snv 0.700 1.000 4 1977 2013
dbSNP: rs1564865302
rs1564865302
KCNJ11
2 0.925 0.040 11 17387395 missense variant G/A snv 0.700 1.000 4 2011 2016
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: 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: 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
HNF1A
2 0.925 0.080 12 120996261 splice acceptor variant G/A;C snv 0.700 1.000 3 2009 2013
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: rs1562715574
rs1562715574
GCK ; LOC105375258
2 0.925 0.080 7 44147795 missense variant T/C snv 0.700 1.000 2 2008 2015
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2018
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2006 2011
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.020 1.000 2 2008 2018
dbSNP: rs10139403
rs10139403
DLK1
1 1.000 0.040 14 100728224 intron variant A/G snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs10515074
rs10515074
PIK3R1
2 0.925 0.120 5 68270365 intron variant A/G;T snv 0.010 1.000 1 2017 2017