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: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
8 0.827 0.280 13 77900593 missense variant G/A snv 0.700 0
dbSNP: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
10 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
dbSNP: rs775097398
rs775097398
EYA1
2 0.925 0.120 8 71216713 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1471362858
rs1471362858
EYA4
3 0.882 0.120 6 133462408 missense variant G/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
10 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs1348505504
rs1348505504
GIPC3
1 1.000 0.120 19 3586669 missense variant G/A snv 7.4E-06 0.700 0
dbSNP: rs786204123
rs786204123
GJB1
3 0.882 0.160 X 71224132 missense variant G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.050 1.000 5 2002 2013
dbSNP: rs35887622
rs35887622
GJB2
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.040 0.750 4 2000 2012
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs104894403
rs104894403
GJB2
7 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 1999 1999
dbSNP: rs104894404
rs104894404
GJB2
4 0.882 0.200 13 20189406 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894409
rs104894409
GJB2
6 0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.010 1.000 1 2005 2005
dbSNP: rs111033196
rs111033196
GJB2
2 1.000 0.120 13 20189202 missense variant C/A;T snv 2.8E-04; 1.4E-02 0.010 1.000 1 2003 2003
dbSNP: rs111033299
rs111033299
GJB2
10 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.010 1.000 1 2003 2003
dbSNP: rs1291519904
rs1291519904
GJB2
2 0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs72561723
rs72561723
GJB2
7 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs750188782
rs750188782
GJB2
5 0.882 0.200 13 20189391 frameshift variant ACACGTTCTTGCAGCC/- delins 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs80338948
rs80338948
GJB2
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs1302739538
rs1302739538
GJB2
3 0.882 0.120 13 20189066 stop gained C/G;T snv 0.700 0
dbSNP: rs28931593
rs28931593
GJB2
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs397516875
rs397516875
GJB2
2 0.925 0.120 13 20189197 stop gained C/A;T snv 6.4E-05 0.700 0
dbSNP: rs11920109
rs11920109
GRM7
1 1.000 0.120 3 7170999 intron variant T/C snv 0.35 0.010 1.000 1 2020 2020