UPK3A, uroplakin 3A, 7380

N. diseases: 25; N. variants: 2
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: rs121918187
rs121918187 		1.000 0.120 22 45293214 missense variant G/A snv
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1417706617
rs1417706617 		22 45293200 synonymous variant C/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017