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: rs2259816
rs2259816
0.827 0.280 12 120997784 synonymous variant G/A;T snv 6.7E-06; 0.40
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.820 1.000 4 2009 2011
dbSNP: rs1169288
rs1169288
0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2464196
rs2464196
0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2009 2009