Gene: HNF4A ×
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: rs201749293
rs201749293
HNF4A
1 1.000 0.080 20 44414649 missense variant C/T snv 1.7E-04 1.0E-04 0.010 1.000 1 2015 2015
dbSNP: rs4810426
rs4810426
HNF4A ; HNF4A-AS1
1 1.000 0.080 20 44373081 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs148745312
rs148745312
HNF4A
1 1.000 0.080 20 44428431 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs16988991
rs16988991
HNF4A
1 1.000 0.080 20 44361137 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs6103716
rs6103716
HNF4A
1 1.000 0.080 20 44370990 intron variant A/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs753056119
rs753056119
HNF4A
1 1.000 0.080 20 44424348 frameshift variant C/- delins 0.010 1.000 1 2019 2019