GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Cataract ×
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: rs398122937
rs398122937 		0.882 0.040 13 20142862 missense variant C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.030 1.000 3 2012 2018
dbSNP: rs1114167307
rs1114167307 		0.851 0.200 13 20143233 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs531379398
rs531379398 		1.000 0.040 13 20143205 synonymous variant C/T snv 8.0E-04 1.2E-04
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2013 2013