Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864309703
rs864309703
GJA8
1.000 0.200 1 147908106 missense variant G/A;C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2010 2017
dbSNP: rs864309703
rs864309703
GJA8
1.000 0.200 1 147908106 missense variant G/A;C;T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016