HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: Low density lipoprotein cholesterol measurement ×
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: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 7 2010 2019
dbSNP: rs1183910
rs1183910 		1.000 0.080 12 120983004 intron variant G/A snv 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2244608
rs2244608 		0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019