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: rs1057515576
rs1057515576
ARL6
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs1057518903
rs1057518903
MEN1
6 0.882 0.160 11 64807890 splice region variant C/- delins 0.700 0
dbSNP: rs1135401784
rs1135401784
CP
3 0.925 0.120 3 149178537 missense variant A/G snv 0.700 0
dbSNP: rs1553769428
rs1553769428
HJV
4 0.925 0.120 1 146018352 stop gained C/A snv 0.700 0
dbSNP: rs1559279177
rs1559279177
HJV
5 0.851 0.160 1 146018661 frameshift variant G/- del 0.700 0
dbSNP: rs28936415
rs28936415
PMM2
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs386134141
rs386134141
CP
3 0.925 0.120 3 149177980 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs587783669
rs587783669
KCNJ11
4 0.882 0.160 11 17387594 stop gained G/C;T snv 0.700 0
dbSNP: rs587783673
rs587783673
KCNJ11
2 1.000 0.120 11 17387407 missense variant C/T snv 0.700 0
dbSNP: rs587783675
rs587783675
KCNJ11
1 11 17387104 missense variant A/G snv 0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs10486567
rs10486567
JAZF1
9 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.010 < 0.001 1 2010 2010
dbSNP: rs11196172
rs11196172
TCF7L2
18 0.708 0.200 10 112967084 intron variant G/A snv 0.13 0.010 < 0.001 1 2016 2016
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs1241356540
rs1241356540
ACE
5 0.851 0.160 17 63497137 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs12733285
rs12733285
ADIPOR1
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs1332629192
rs1332629192
ALB
7 0.851 0.200 4 73404374 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1342387
rs1342387
ADIPOR1
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 < 0.001 1 2012 2012
dbSNP: rs1388926124
rs1388926124
HNF1A ; HNF1A-AS1
2 1.000 0.040 12 120978862 missense variant G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1444739794
rs1444739794
GCK
3 0.925 0.080 7 44153324 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 1998 1998
dbSNP: rs150179526
rs150179526
GCG ; LOC101929532
2 1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03 0.010 < 0.001 1 2002 2002
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs17111503
rs17111503
PCSK9
7 0.925 0.160 1 55037775 upstream gene variant A/G snv 0.22 0.010 < 0.001 1 2017 2017
dbSNP: rs1799854
rs1799854
ABCC8
3 0.925 0.080 11 17427157 splice region variant G/A snv 0.44 0.37 0.010 < 0.001 1 2009 2009
dbSNP: rs1805002
rs1805002
CCKBR
4 0.882 0.160 11 6269890 missense variant G/A snv 4.4E-02 5.1E-02 0.010 < 0.001 1 2002 2002