Source: ALL

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: rs104893746
rs104893746
MITF
0.851 0.120 3 69956460 stop gained C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs104894398
rs104894398
GJB2
0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs104894403
rs104894403
GJB2
0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs104894408
rs104894408
GJB2
0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs111033205
rs111033205
SLC26A4 ; SLC26A4-AS1
0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs111033220
rs111033220
SLC26A4
0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs111033295
rs111033295
GJB2
0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs111033305
rs111033305
SLC26A4
0.925 0.160 7 107690200 missense variant G/A;C snv 1.0E-04; 8.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs111033312
rs111033312
SLC26A4
0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs111033401
rs111033401
GJB2
1.000 0.120 13 20189573 stop gained C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs121908073
rs121908073
TMC1
0.925 0.120 9 72694578 stop gained C/T snv 5.6E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs121918470
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs1253943370
rs1253943370
MYO7A
0.925 0.200 11 77189416 stop gained G/A snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs1556300621
rs1556300621
PRPS1
X 107645286 missense variant C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs201562855
rs201562855
SLC26A4
0.925 0.160 7 107690148 missense variant A/T snv 4.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs397507509
rs397507509
PTPN11
0.807 0.240 12 112450359 missense variant G/C;T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs397507539
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs397507540
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs397507547
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs397518039
rs397518039
USH2A
0.851 0.200 1 215877882 splice acceptor variant T/C snv 3.2E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs72474224
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0