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: rs1569169328
rs1569169328
POLR2F ; SOX10
3 0.925 0.200 22 37978136 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1569492161
rs1569492161
COL4A5
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
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: rs200455852
rs200455852
ASAH1
6 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
dbSNP: rs281874674
rs281874674
COL4A5
8 0.827 0.280 X 108597479 missense variant G/C;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: 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: rs397516875
rs397516875
GJB2
2 0.925 0.120 13 20189197 stop gained C/A;T snv 6.4E-05 0.700 0
dbSNP: rs549556142
rs549556142
CDC14A
2 0.925 0.120 1 100484347 stop gained C/A;T snv 1.6E-04; 4.1E-06 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs745434198
rs745434198
COL11A2
1 1.000 0.120 6 33165983 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs763320093
rs763320093
LMX1A ; LMX1A-AS2
1 1.000 0.120 1 165203923 missense variant A/G snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs772606235
rs772606235
TECTA
4 0.882 0.120 11 121137586 missense variant G/A;T snv 5.2E-05 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: rs796053353
rs796053353
STXBP1
6 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0
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: rs876661408
rs876661408
CDC14A
2 0.925 0.120 1 100484440 stop gained C/T snv 4.3E-06 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