HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2244608
rs2244608
0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 2 2013 2019
dbSNP: rs1169288
rs1169288
0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs1800574
rs1800574
0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019