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: rs193922602
rs193922602
HNF1A
1 1.000 0.080 12 120994181 stop gained G/T snv 0.700 0
dbSNP: rs193922603
rs193922603
HNF1A
1 1.000 0.080 12 120994184 missense variant G/T snv 0.700 0
dbSNP: rs193922604
rs193922604
HNF1A
1 1.000 0.080 12 120994240 missense variant G/T snv 0.700 0
dbSNP: rs193922605
rs193922605
HNF1A
1 1.000 0.080 12 120994253 missense variant T/C snv 0.700 0
dbSNP: rs193922606
rs193922606
HNF1A
1 1.000 0.080 12 120994322 stop gained C/A;G;T snv 2.1E-05; 2.1E-05; 4.6E-05 0.700 0
dbSNP: rs754729248
rs754729248
HNF1A
6 0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 0.700 0
dbSNP: rs774637975
rs774637975
HNF1A ; HNF1A-AS1
1 1.000 0.080 12 120978797 missense variant C/T snv 2.0E-05 2.1E-05 0.700 0
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: rs1555212747
rs1555212747
HNF1A ; C12orf43
1 1.000 0.080 12 121001113 frameshift variant -/C delins 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: rs193922578
rs193922578
HNF1A ; HNF1A-AS1
1 1.000 0.080 12 120978894 frameshift variant C/- delins 0.700 0
dbSNP: rs193922582
rs193922582
HNF1A
1 1.000 0.080 12 120999269 frameshift variant -/CT delins 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: rs193922599
rs193922599
HNF1A
1 1.000 0.080 12 120993655 inframe deletion GAA/- delins 0.700 0
dbSNP: rs587776825
rs587776825
HNF1A
5 0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs762703502
rs762703502
HNF1A
1 1.000 0.080 12 120994312 frameshift variant G/- delins 0.700 0
dbSNP: rs1555211927
rs1555211927
HNF1A
1 1.000 0.080 12 120993669 inframe deletion AAG/- del 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: rs1555212749
rs1555212749
HNF1A ; C12orf43
1 1.000 0.080 12 121001118 frameshift variant AGCCACCT/- del 0.700 0
dbSNP: rs193922588
rs193922588
HNF1A ; HNF1A-AS1
1 1.000 0.080 12 120978937 frameshift variant C/- del 0.700 0