HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: Acute Chest Syndrome ×
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: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017