CUBN, cubilin, 8029

N. diseases: 103; N. variants: 79
Disease: Chronic kidney disease stage 5 ×
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: rs1801239
rs1801239 		0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7918972
rs7918972 		0.925 0.080 10 16828293 intron variant T/G snv 0.15
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012