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: rs1307997067
rs1307997067
TAX1BP3 ; P2RX5-TAX1BP3
7 0.851 0.320 17 3664199 missense variant A/C;G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137853236
rs137853236
HNF1A
6 0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1555212014
rs1555212014
HNF1A
6 0.807 0.280 12 120994264 missense variant C/T snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs397507478
rs397507478
BRAF
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs587776825
rs587776825
HNF1A
5 0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs587780357
rs587780357
HNF1A
1 1.000 0.120 12 120993601 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs754729248
rs754729248
HNF1A
6 0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 0.700 0
dbSNP: rs782511378
rs782511378
FOXP3
1 1.000 0.120 X 49257483 missense variant G/A snv 2.2E-05 0.700 0
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 1996 1996
dbSNP: rs1801483
rs1801483
GCGR
7 0.851 0.160 17 81809839 missense variant G/A snv 7.4E-03 6.3E-03 0.010 1.000 1 1997 1997
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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1460002897
rs1460002897
SLC26A3
1 1.000 0.120 7 107793769 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 1999 1999
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: rs1190356035
rs1190356035
GAD1
4 0.882 0.360 2 170853979 missense variant G/A snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1801208
rs1801208
WFS1
4 0.882 0.360 4 6301162 missense variant G/A snv 5.7E-02 5.0E-02 0.010 1.000 1 2000 2000
dbSNP: rs1805070
rs1805070
WFS1
1 1.000 0.120 4 6301953 missense variant A/C;G snv 1.4E-04; 7.3E-03 0.010 1.000 1 2000 2000
dbSNP: rs734312
rs734312
WFS1
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.010 1.000 1 2000 2000
dbSNP: rs754855896
rs754855896
HLA-DQB2
3 0.925 0.120 6 32758877 missense variant G/A;T snv 4.0E-06; 8.1E-06 0.010 1.000 1 2000 2000
dbSNP: rs9273643
rs9273643
HLA-DQB1
3 0.925 0.120 6 32661407 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs1022059218
rs1022059218
ICOS ; LOC101927840
2 0.925 0.200 2 203936863 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs1800477
rs1800477
BCL2
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 < 0.001 1 2001 2001