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: rs776793516
rs776793516
HNF1A
2 0.925 0.080 12 120997492 frameshift variant CA/- delins 4.0E-06 0.700 1.000 7 1997 2014
dbSNP: rs1172328722
rs1172328722
HNF1A
2 0.925 0.080 12 120988982 missense variant G/A snv 0.700 1.000 5 1997 2010
dbSNP: rs1565886545
rs1565886545
HNF1A
2 0.925 0.080 12 120996261 splice acceptor variant G/A;C snv 0.700 1.000 3 2009 2013
dbSNP: rs1131692182
rs1131692182
HNF1A
1 1.000 0.080 12 120997666 splice donor variant G/A snv 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: rs137853237
rs137853237
HNF1A
1 1.000 0.080 12 120988871 missense variant A/G snv 0.700 0
dbSNP: rs137853241
rs137853241
HNF1A ; C12orf43
1 1.000 0.080 12 121001155 missense variant C/T snv 0.700 0
dbSNP: rs137853243
rs137853243
HNF1A
3 0.882 0.080 12 120988841 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs137853244
rs137853244
HNF1A
2 0.925 0.200 12 120988897 missense variant C/T snv 0.700 0
dbSNP: rs137853245
rs137853245
HNF1A
1 1.000 0.080 12 120994277 missense variant C/A;G snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs137853246
rs137853246
HNF1A
1 1.000 0.080 12 120999358 missense variant G/C snv 2.0E-05 0.700 0
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 0.700 0
dbSNP: rs1463923467
rs1463923467
HNF1A
1 1.000 0.080 12 120994163 splice acceptor variant G/A snv 0.700 0
dbSNP: rs150513055
rs150513055
HNF1A
1 1.000 0.080 12 120988973 missense variant C/A;T snv 1.2E-05; 6.4E-05 0.700 0
dbSNP: rs1555211927
rs1555211927
HNF1A
1 1.000 0.080 12 120993669 inframe deletion AAG/- del 0.700 0
dbSNP: rs1555212014
rs1555212014
HNF1A
6 0.807 0.280 12 120994264 missense variant C/T snv 0.700 0
dbSNP: rs1555212248
rs1555212248
HNF1A
2 0.925 0.080 12 120996570 frameshift variant T/- del 0.700 0
dbSNP: rs1555212359
rs1555212359
HNF1A
1 1.000 0.080 12 120997523 frameshift variant C/- del 0.700 0
dbSNP: rs1555212747
rs1555212747
HNF1A ; C12orf43
1 1.000 0.080 12 121001113 frameshift variant -/C delins 0.700 0
dbSNP: rs1555212749
rs1555212749
HNF1A ; C12orf43
1 1.000 0.080 12 121001118 frameshift variant AGCCACCT/- del 0.700 0
dbSNP: rs1565885935
rs1565885935
HNF1A
1 1.000 0.080 12 120994313 frameshift variant GCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTG/- delins 0.700 0
dbSNP: rs193922576
rs193922576
HNF1A
1 1.000 0.080 12 120996558 frameshift variant C/- delins 0.700 0
dbSNP: rs193922577
rs193922577
HNF1A
1 1.000 0.080 12 120996698 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs193922578
rs193922578
HNF1A ; HNF1A-AS1
1 1.000 0.080 12 120978894 frameshift variant C/- delins 0.700 0
dbSNP: rs193922580
rs193922580
HNF1A
1 1.000 0.080 12 120997588 missense variant C/A;T snv 1.2E-05; 5.2E-05 0.700 0