FLCN, folliculin, 201163

N. diseases: 30; N. variants: 122
Disease: Conventional (Clear Cell) Renal Cell Carcinoma ×
Source: CURATED ×
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: rs758175953
rs758175953 		0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs78683075
rs78683075 		1.000 0.120 17 17222565 missense variant G/A snv 2.6E-04 2.4E-04
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs879255678
rs879255678 		0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0