UPK3B, uroplakin 3B, 105375355

N. diseases: 82; N. variants: 3
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: rs1430937516
rs1430937516
1.000 0.120 7 76510939 missense variant A/G snv 7.0E-06
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs775645890
rs775645890
7 76515192 missense variant C/T snv
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs779612015
rs779612015
7 76515186 missense variant C/T snv 4.7E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2017 2017