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: 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: rs730882203
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs797045128
rs797045128
SF3B4
1.000 0.120 1 149925922 frameshift variant GGG/-;GG;GGGG delins
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
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: 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: 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: 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: 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: rs192366176
rs192366176
SLC26A4
0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs200455203
rs200455203
SLC26A4
0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05
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: rs786204581
rs786204581
SLC26A4 ; SLC26A4-AS1
0.925 0.160 7 107663366 stop gained C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs886039799
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs912147281
rs912147281
SLC26A4
0.925 0.160 7 107683356 splice donor variant T/C snv 8.0E-06 1.4E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs886039810
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C 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: 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: rs782539587
rs782539587
MYO7A
0.925 0.200 11 77161030 stop gained A/T snv 1.6E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs794728537
rs794728537
KCNQ1
0.925 0.120 11 2778023 stop gained C/T snv
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