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: rs1569167515
rs1569167515
POLR2F ; SOX10
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
dbSNP: rs1057518895
rs1057518895
AIFM1 ; RAB33A
4 1.000 0.120 X 130137134 start lost A/G snv 0.700 0
dbSNP: rs1057517694
rs1057517694
CEP78
3 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1569169328
rs1569169328
POLR2F ; SOX10
3 0.925 0.200 22 37978136 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.010 1.000 1 2005 2005
dbSNP: rs1233562246
rs1233562246
OTOGL
2 0.925 0.120 12 80255055 frameshift variant T/- del 0.010 1.000 1 2012 2012
dbSNP: rs1555817157
rs1555817157
ABHD12
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
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: rs1057517695
rs1057517695
CEP78
3 0.882 0.200 9 78241729 frameshift variant T/- delins 0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1564494285
rs1564494285
RET
6 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
dbSNP: rs1567498374
rs1567498374
KARS1
5 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1057516039
rs1057516039
KMT2D
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs372466080
rs372466080
MYO15A
2 0.925 0.120 17 18166434 synonymous variant C/T snv 1.9E-04 1.0E-04 0.700 0
dbSNP: rs267606617
rs267606617
ND1 ; RNR1
1 1.000 0.120 MT 1555 non coding transcript exon variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
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: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2005 2011
dbSNP: rs121912557
rs121912557
MYO6
4 0.882 0.120 6 75857198 missense variant G/A snv 0.020 1.000 2 2004 2019
dbSNP: rs10258719
rs10258719
ATP6V0A4
2 0.925 0.280 7 138771243 missense variant A/C;G;T snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
4 0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 0.010 1.000 1 2000 2000
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