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: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.020 1.000 2 1999 2016
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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.800 15 2000 2019
dbSNP: rs137853240
rs137853240
HNF1A
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.090 1.000 9 2000 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.080 0.875 8 2000 2018
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.040 0.750 4 2000 2013
dbSNP: rs137852785
rs137852785
PDX1
3 0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04 0.030 1.000 3 2000 2019
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2015
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: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.020 1.000 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: 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: 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: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.070 0.571 7 2001 2012