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: rs1131692182
rs1131692182
HNF1A
1 1.000 0.080 12 120997666 splice donor variant G/A snv 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: 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: 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: 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
dbSNP: rs193922582
rs193922582
HNF1A
1 1.000 0.080 12 120999269 frameshift variant -/CT delins 0.700 0
dbSNP: rs193922588
rs193922588
HNF1A ; HNF1A-AS1
1 1.000 0.080 12 120978937 frameshift variant C/- del 0.700 0
dbSNP: rs193922589
rs193922589
HNF1A
1 1.000 0.080 12 120999604 missense variant A/G snv 5.4E-05 2.1E-05 0.700 0
dbSNP: rs193922592
rs193922592
HNF1A ; HNF1A-AS1
1 1.000 0.080 12 120978769 start lost A/G;T snv 0.700 0
dbSNP: rs193922593
rs193922593
HNF1A ; HNF1A-AS1
1 1.000 0.080 12 120979049 missense variant C/T snv 0.700 0
dbSNP: rs193922594
rs193922594
HNF1A ; HNF1A-AS1
1 1.000 0.080 12 120979079 frameshift variant -/G delins 0.700 0
dbSNP: rs193922596
rs193922596
HNF1A
1 1.000 0.080 12 120988874 protein altering variant -/GCA delins 0.700 0
dbSNP: rs193922597
rs193922597
HNF1A
1 1.000 0.080 12 120988947 missense variant C/A snv 0.700 0
dbSNP: rs193922598
rs193922598
HNF1A
1 1.000 0.080 12 120993591 missense variant C/T snv 0.700 0