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: 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: rs745434198
rs745434198
COL11A2
1.000 0.120 6 33165983 missense variant C/A;T snv 4.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs763320093
rs763320093
LMX1A ; LMX1A-AS2
1.000 0.120 1 165203923 missense variant A/G snv 1.6E-05 1.4E-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: rs771409809
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06
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: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs796053353
rs796053353
STXBP1
0.882 0.120 9 127661192 missense variant C/T 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: rs876661408
rs876661408
CDC14A
0.925 0.120 1 100484440 stop gained C/T snv 4.3E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs104894403
rs104894403
GJB2
0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.710 1.000 0 1999 1999
dbSNP: rs587781262
rs587781262
PRPS1
0.882 0.240 X 107640938 missense variant A/G snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2015 2015
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: rs1057516039
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2016 2016
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: rs752298579
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs758723288
rs758723288
ECHS1
0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1135401743
rs1135401743
HAAO ; MTA3
0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2017 2017
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