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: rs1554360816
rs1554360816
SLC26A4
1.000 0.120 7 107701069 intron variant TAAGTAACTTGACATTT/- delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1057519468
rs1057519468
HEXA
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 1.000 1 2014 2014
dbSNP: rs1554958045
rs1554958045
KCNQ1
1.000 0.080 11 2445213 stop gained G/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 1.000 1 2017 2017
dbSNP: rs786204585
rs786204585
HEXA
0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 1.000 1 2014 2014
dbSNP: rs104894396
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.710 1.000 0 2019 2019
dbSNP: rs104894398
rs104894398
GJB2
0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs104894407
rs104894407
GJB2
0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.710 1.000 0 2001 2001
dbSNP: rs1057516342
rs1057516342
PCDH15
0.925 0.200 10 53995732 stop gained G/A;C snv 8.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1057517303
rs1057517303
SLC26A4
0.925 0.160 7 107710192 stop gained T/A;C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1057517966
rs1057517966
MITF
0.925 0.160 3 69959325 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1057519438
rs1057519438
CDK20
0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs111033297
rs111033297
GJB2
1.000 0.120 13 20189413 stop gained G/A snv 2.8E-05 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs111033335
rs111033335
GJB2
1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs111033364
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs111033380
rs111033380
SLC26A4
1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1187168418
rs1187168418
TPRN
1.000 0.120 9 137199553 stop gained C/A;G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1209665716
rs1209665716
MYO15A ; LOC105371566
1.000 0.120 17 18135798 stop gained C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1244688796
rs1244688796
KCNE1
0.925 0.200 21 34449584 stop gained C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1284633493
rs1284633493
SLC26A4
1.000 0.120 7 107694478 stop gained A/G;T snv 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1344509500
rs1344509500
CDH23
1.000 0.120 10 71810017 stop gained G/T snv 4.1E-06 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs137853001
rs137853001
PCDH15
0.925 0.200 10 54664256 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs138385061
rs138385061
ERCC3
1.000 0.160 2 127289763 stop gained G/A;C snv 1.6E-05; 8.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1403112959
rs1403112959
OTOF
1.000 0.120 2 26482563 stop gained A/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1445287184
rs1445287184
PTPRQ ; LOC105369867
1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0