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: rs1566538321
rs1566538321
GJB6
1 1.000 0.120 13 20222994 frameshift variant G/- delins 0.700 0
dbSNP: rs772862268
rs772862268
GJB6
1 1.000 0.120 13 20223159 stop gained G/A snv 1.2E-05 2.8E-05 0.700 0
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 2009 2009
dbSNP: rs780320724
rs780320724
GJB6
2 0.925 0.120 13 20223362 missense variant G/A snv 5.6E-05 0.010 1.000 1 2011 2011