GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Bilateral cataracts (disorder) ×
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: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.020 1.000 2 2013 2018
dbSNP: rs1114167307
rs1114167307 		0.851 0.200 13 20143233 missense variant G/A snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2015 2015