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: rs8192556
rs8192556
NEUROD1 ; CERKL
2 0.925 0.120 2 181678271 missense variant G/T snv 1.9E-02 1.6E-02 0.020 0.500 2 2000 2003
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
dbSNP: rs371074389
rs371074389
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs766914563
rs766914563
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs781172058
rs781172058
CXCR4
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1284566036
rs1284566036
GGT1
1 1.000 0.120 22 24615074 missense variant C/T snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs1303328174
rs1303328174
GCG ; LOC101929532
1 1.000 0.120 2 162144042 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1428168076
rs1428168076
CAT
1 1.000 0.120 11 34452152 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1460874866
rs1460874866
SERPINA1
1 1.000 0.120 14 94382987 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs375960284
rs375960284
GCG ; LOC101929532
1 1.000 0.120 2 162145570 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs5650
rs5650
GCG ; LOC101929532
1 1.000 0.120 2 162145588 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs754246590
rs754246590
SERPINA3
1 1.000 0.120 14 94614689 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.030 1.000 3 2003 2004
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 < 0.001 1 2003 2003
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.950 80 2004 2020
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.100 0.950 20 2004 2012