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: 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: 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: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs2229616
rs2229616
MC4R
22 0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02 0.010 1.000 1 1999 1999
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 1999 1999
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
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2000 2000
dbSNP: rs1131498
rs1131498
SELL ; C1orf112
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2000 2000
dbSNP: rs1240512008
rs1240512008
HNF4A
2 1.000 0.040 20 44413780 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs1406167595
rs1406167595
TCF7
2 1.000 0.040 5 134114958 missense variant G/A snv 1.5E-05 0.010 1.000 1 2000 2000
dbSNP: rs142318174
rs142318174
HNF1A ; HNF1A-AS1
2 1.000 0.040 12 120978923 missense variant G/C snv 2.0E-04 8.1E-04 0.010 1.000 1 2000 2000
dbSNP: rs143517122
rs143517122
PDX1
2 1.000 0.040 13 27924267 missense variant G/A;T snv 2.1E-04; 4.2E-06 0.010 1.000 1 2000 2000