Gene: HNF1A ×
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: 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: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.050 1.000 5 2008 2019
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: rs1800574
rs1800574
HNF1A ; HNF1A-AS1
6 0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02 0.020 1.000 2 2008 2018
dbSNP: rs2464196
rs2464196
HNF1A
17 0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27 0.020 1.000 2 2011 2016
dbSNP: rs1057520504
rs1057520504
HNF1A
4 0.882 0.080 12 120994238 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1228534100
rs1228534100
HNF1A ; HNF1A-AS1
3 1.000 0.040 12 120978892 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs137853247
rs137853247
HNF1A ; HNF1A-AS1
5 0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1388926124
rs1388926124
HNF1A ; HNF1A-AS1
2 1.000 0.040 12 120978862 missense variant G/A snv 0.010 < 0.001 1 2006 2006
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: rs483353044
rs483353044
HNF1A
4 0.882 0.080 12 120999288 missense variant G/A;C snv 4.9E-04 0.010 1.000 1 2018 2018
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: rs753998395
rs753998395
HNF1A
3 0.925 0.080 12 120988898 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016