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: 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: rs137853238
rs137853238
HNF1A
6 0.807 0.200 12 120994265 missense variant G/A snv 0.700 1.000 6 1997 2009
dbSNP: rs1057524908
rs1057524908
HNF1A
2 0.925 0.080 12 120993686 frameshift variant -/C delins 0.700 1.000 4 2000 2013
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: rs137853240
rs137853240
HNF1A
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.010 1.000 1 2005 2005