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: rs28938175
rs28938175
COCH ; LOC100506071
6 0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs431905517
rs431905517
SLC26A5
2 0.925 0.120 7 103413015 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs431905518
rs431905518
SLC26A5
2 0.925 0.120 7 103420821 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs80338950
rs80338950
GJB2
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs864321686
rs864321686
COQ7
3 0.925 0.120 16 19075775 missense variant T/A snv 0.010 1.000 1 2017 2017