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: rs59616921
rs59616921
KRT9
7 0.807 0.120 17 41571506 missense variant G/A snv 0.710 1.000 1 2009 2009
dbSNP: rs1057518846
rs1057518846
AAGAB
1 1.000 0.080 15 67235978 splice donor variant C/A;G snv 0.700 0
dbSNP: rs587781245
rs587781245
SASH1
3 0.882 0.120 6 148533885 missense variant G/A snv 6.8E-05 7.0E-05 0.700 0
dbSNP: rs104894402
rs104894402
GJB2
5 0.882 0.200 13 20189359 missense variant G/A;C snv 0.050 1.000 5 2002 2011
dbSNP: rs28931593
rs28931593
GJB2
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.050 1.000 5 2002 2014
dbSNP: rs104894404
rs104894404
GJB2
4 0.882 0.200 13 20189406 missense variant C/G;T snv 0.030 1.000 3 2010 2011
dbSNP: rs750188782
rs750188782
GJB2
5 0.882 0.200 13 20189391 frameshift variant ACACGTTCTTGCAGCC/- delins 1.2E-05 0.030 1.000 3 2010 2011
dbSNP: rs775911480
rs775911480
GJB6
2 1.000 0.080 13 20223257 missense variant C/T snv 2.4E-05 0.030 1.000 3 2010 2014
dbSNP: rs104894403
rs104894403
GJB2
7 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2000 2000
dbSNP: rs104894406
rs104894406
GJB2
2 0.925 0.200 13 20188977 missense variant C/A snv 0.020 1.000 2 2010 2011
dbSNP: rs80338950
rs80338950
GJB2
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.020 1.000 2 2010 2011
dbSNP: rs121912968
rs121912968
GJB2
5 0.827 0.280 13 20189364 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1254374766
rs1254374766
AAGAB
1 1.000 0.080 15 67208580 stop gained G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1364245978
rs1364245978
GJB6
1 1.000 0.080 13 20222876 missense variant C/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs200564757
rs200564757
AAGAB
2 0.925 0.080 15 67236060 stop gained G/A;T snv 2.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs28931595
rs28931595
GJB2
2 0.925 0.200 13 20189047 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs746488412
rs746488412
AAGAB
2 0.925 0.080 15 67231868 stop gained G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs761331634
rs761331634
DSP
1 1.000 0.080 6 7579740 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs879253741
rs879253741
GJB2
3 0.882 0.200 13 20189516 missense variant C/A snv 0.010 1.000 1 2017 2017