NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Carcinoma of bladder ×
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: rs1805794
rs1805794 		0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2012 2014
dbSNP: rs1063054
rs1063054 		0.807 0.160 8 89934373 3 prime UTR variant T/G snv 0.32
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs709816
rs709816 		0.752 0.320 8 89955483 synonymous variant A/G snv 0.47 0.51
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010