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: rs1801483
rs1801483
GCGR
7 0.851 0.160 17 81809839 missense variant G/A snv 7.4E-03 6.3E-03 0.020 1.000 2 1995 2002
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
8 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.010 1.000 1 1995 1995
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.050 1.000 5 1996 2018
dbSNP: rs1255911887
rs1255911887
GCK ; LOC105375258
3 0.925 0.080 7 44146584 missense variant C/T snv 0.010 1.000 1 1997 1997
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: rs33929415
rs33929415
HBB
1 11 5225612 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.100 0.842 38 1999 2018
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.842 38 1999 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.070 0.714 7 1999 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.070 0.714 7 1999 2014
dbSNP: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.050 1.000 5 1999 2014
dbSNP: rs137852783
rs137852783
PDX1
4 0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03 0.040 0.750 4 1999 2004
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.030 1.000 3 1999 2010
dbSNP: rs137852784
rs137852784
PDX1
3 0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05 0.020 1.000 2 1999 2000