Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517694
rs1057517694
CEP78
0.882 0.200 9 78248290 splice acceptor variant G/A snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1348505504
rs1348505504
GIPC3
1.000 0.120 19 3586669 missense variant G/A snv 7.4E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
0.827 0.280 13 77900593 missense variant G/A snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs61753219
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs144948296
rs144948296
CKMT1B ; STRC
0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs111033437
rs111033437
MYO7A
0.882 0.120 11 77179925 missense variant G/A;T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs772606235
rs772606235
TECTA
0.882 0.120 11 121137586 missense variant G/A;T snv 5.2E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1569492161
rs1569492161
COL4A5
0.882 0.280 X 108586729 missense variant G/C snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs281874674
rs281874674
COL4A5
0.827 0.280 X 108597479 missense variant G/C;T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1131692056
rs1131692056
PRKCB
1.000 0.120 16 23988577 missense variant G/T snv 7.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs587781263
rs587781263
PRPS1
0.925 0.240 X 107650000 missense variant G/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs1057517695
rs1057517695
CEP78
0.882 0.200 9 78241729 frameshift variant T/- delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1559320299
rs1559320299
PAX3 ; CCDC140
0.925 0.160 2 222297043 missense variant T/A snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs200455852
rs200455852
ASAH1
0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2018 2018
dbSNP: rs1564494285
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0