Gene: GJB1 ×
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: rs1555937009
rs1555937009
GJB1
1 1.000 0.080 X 71223757 missense variant C/G snv 0.700 0
dbSNP: rs104894814
rs104894814
GJB1
2 0.925 0.080 X 71224365 stop gained C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894822
rs104894822
GJB1
2 0.925 0.080 X 71224321 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs104894826
rs104894826
GJB1
3 0.882 0.080 X 71224114 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1555937122
rs1555937122
GJB1
4 0.925 0.080 X 71223973 missense variant T/C snv 0.010 1.000 1 2016 2016