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: rs104894415
rs104894415
GJB6
11 0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06 0.830 1.000 15 2000 2016
dbSNP: rs104894416
rs104894416
GJB6
3 0.882 0.160 13 20223371 missense variant A/T snv 4.0E-06 0.830 1.000 4 2000 2014
dbSNP: rs28937872
rs28937872
GJB6
5 0.851 0.200 13 20223218 missense variant G/A snv 0.740 1.000 9 2000 2019
dbSNP: rs770612890
rs770612890
GJB6
1 1.000 0.080 13 20223418 frameshift variant C/- delins 3.1E-04 0.700 1.000 2 2006 2014
dbSNP: rs104894408
rs104894408
GJB2
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs1064794946
rs1064794946
GJB3 ; SMIM12 ; LOC105378642
2 0.925 0.120 1 34784872 missense variant T/A snv 0.010 1.000 1 2004 2004
dbSNP: rs768448761
rs768448761
RPE65
1 1.000 0.080 1 68448624 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013