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: 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: 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
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 2000 2000
dbSNP: rs587778393
rs587778393
HNF1A ; HNF1A-AS1
2 1.000 0.040 12 120978923 missense variant GC/CT mnv 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: rs754907741
rs754907741
HNF4A
2 1.000 0.040 20 44414567 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs763010207
rs763010207
HNF4A
3 0.925 0.080 20 44414531 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs779271027
rs779271027
HNF4A
2 1.000 0.040 20 44413723 missense variant A/C;G snv 4.0E-06; 8.0E-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: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2001 2001
dbSNP: rs199976415
rs199976415
NR0B2 ; NUDC
2 1.000 0.040 1 26911982 missense variant G/A snv 6.0E-05 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs2270565
rs2270565
UCP1
4 0.882 0.080 4 140562317 missense variant T/A snv 8.9E-02 6.5E-02 0.010 1.000 1 2001 2001
dbSNP: rs757431022
rs757431022
SORBS1
3 0.925 0.120 10 95432529 missense variant G/A snv 1.4E-04 4.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs1169305
rs1169305
HNF1A
2 1.000 0.040 12 120999579 missense variant A/G snv 1.00 0.99 0.020 1.000 2 2000 2002
dbSNP: rs777418530
rs777418530
CRISPLD2
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2002 2002
dbSNP: rs1037733674
rs1037733674
GCG ; LOC101929532
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002