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: rs1569169328
rs1569169328
POLR2F ; SOX10
0.925 0.200 22 37978136 splice acceptor variant C/T snv
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: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv
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: 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: rs28931593
rs28931593
GJB2
0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs372466080
rs372466080
MYO15A
0.925 0.120 17 18166434 synonymous variant C/T snv 1.9E-04 1.0E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs397516875
rs397516875
GJB2
0.925 0.120 13 20189197 stop gained C/A;T snv 6.4E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs549556142
rs549556142
CDC14A
0.925 0.120 1 100484347 stop gained C/A;T snv 1.6E-04; 4.1E-06
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: 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