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: rs137853247
rs137853247
0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0