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: rs104894396
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
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: rs111033204
rs111033204
GJB2
0.925 0.120 13 20189282 frameshift variant AT/- del 6.4E-05 2.8E-05
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: rs111033253
rs111033253
GJB2
0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-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: rs111033313
rs111033313
SLC26A4
0.925 0.160 7 107683453 splice acceptor variant A/G snv 3.6E-04 1.7E-04
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs111033348
rs111033348
SLC26A4
0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-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: rs121908362
rs121908362
SLC26A4
0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs121908363
rs121908363
SLC26A4
0.925 0.160 7 107710126 missense variant C/T snv 5.2E-05 2.8E-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: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
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: rs1241745103
rs1241745103
SLC26A4
0.925 0.160 7 107701139 frameshift variant G/- del 7.0E-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: rs143343083
rs143343083
GJB2
1.000 0.120 13 20189284 missense variant G/A snv 1.2E-05 2.8E-05
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