Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894414
rs104894414
GJB6
1 1.000 0.120 13 20223467 missense variant G/A snv 2.4E-05 1.4E-05 0.800 1.000 1 1999 1999
dbSNP: rs104894415
rs104894415
GJB6
11 0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06 0.700 1.000 10 2000 2016
dbSNP: rs28937872
rs28937872
GJB6
5 0.851 0.200 13 20223218 missense variant G/A snv 0.700 1.000 8 2000 2016
dbSNP: rs780320724
rs780320724
GJB6
2 0.925 0.120 13 20223362 missense variant G/A snv 5.6E-05 0.700 1.000 1 2007 2007