Gene: GJB6 ×
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: rs189971962
rs189971962
GJB6
1 13 20223085 synonymous variant C/T snv 1.8E-04 3.5E-05 0.010 1.000 1 2001 2001
dbSNP: rs28937872
rs28937872
GJB6
5 0.851 0.200 13 20223218 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs577509855
rs577509855
GJB6
1 13 20223387 stop gained G/A snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs775911480
rs775911480
GJB6
2 1.000 0.080 13 20223257 missense variant C/T snv 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs776848994
rs776848994
GJB6
2 1.000 0.120 13 20223480 start lost T/C snv 1.6E-05 4.2E-05 0.010 1.000 1 2014 2014