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: 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: rs1057516039
rs1057516039
KMT2D
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1131692056
rs1131692056
PRKCB
1 1.000 0.120 16 23988577 missense variant G/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1135401743
rs1135401743
HAAO ; MTA3
11 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1555817157
rs1555817157
ABHD12
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263
PRPS1
5 0.925 0.240 X 107650000 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs758723288
rs758723288
ECHS1
4 0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057517694
rs1057517694
CEP78
3 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517695
rs1057517695
CEP78
3 0.882 0.200 9 78241729 frameshift variant T/- 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: rs111033437
rs111033437
MYO7A
6 0.882 0.120 11 77179925 missense variant G/A;T snv 0.700 0
dbSNP: rs1302739538
rs1302739538
GJB2
3 0.882 0.120 13 20189066 stop gained C/G;T snv 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: rs144948296
rs144948296
CKMT1B ; STRC
3 0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04 0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1558939623
rs1558939623
CHN1
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs1559320299
rs1559320299
PAX3 ; CCDC140
4 0.925 0.160 2 222297043 missense variant T/A snv 0.700 0
dbSNP: rs1564494285
rs1564494285
RET
6 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
8 0.827 0.280 13 77900593 missense variant G/A snv 0.700 0
dbSNP: rs1567498374
rs1567498374
KARS1
5 0.882 0.160 16 75630493 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0