Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853247
rs137853247
HNF1A ; HNF1A-AS1
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 		0.700 0
dbSNP: rs137853247
rs137853247
HNF1A ; HNF1A-AS1
0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.700 0
dbSNP: rs137853247
rs137853247
HNF1A ; HNF1A-AS1
0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		0.700 0
dbSNP: rs137853247
rs137853247
HNF1A ; HNF1A-AS1
0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2006 2006
dbSNP: rs137853247
rs137853247
HNF1A ; HNF1A-AS1
0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2006 2006