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: rs768933093
rs768933093
BBS10
10 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 0
dbSNP: rs104894401
rs104894401
GJB2
4 0.851 0.120 13 20189154 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs121909060
rs121909060
TECTA
2 0.925 0.120 11 121160301 missense variant G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs121909061
rs121909061
TECTA
2 0.925 0.120 11 121166703 missense variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs281865415
rs281865415
TECTA
2 0.925 0.120 11 121166652 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs28937872
rs28937872
GJB6
5 0.851 0.200 13 20223218 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs587777692
rs587777692
P2RX2
2 0.925 0.120 12 132619443 missense variant G/T snv 0.010 1.000 1 2013 2013
dbSNP: rs74315319
rs74315319
GJB3 ; SMIM12 ; LOC105378642
2 1.000 0.120 1 34785300 stop gained C/T snv 8.8E-05 3.5E-05 0.010 1.000 1 2017 2017