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: rs35887622
rs35887622
0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.740 0.833 2 2001 2012
dbSNP: rs1057519464
rs1057519464
0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 1.000 1 2014 2014
dbSNP: rs1057519468
rs1057519468
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: rs121907966
rs121907966
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 1.000 1 1992 1992
dbSNP: rs121907972
rs121907972
0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 1.000 1 2012 2012
dbSNP: rs1554958045
rs1554958045
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
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: rs879253799
rs879253799
0.882 0.320 2 171443559 frameshift variant A/- delins
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 1.000 1 2016 2016
dbSNP: rs104894396
rs104894396
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
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: rs104894402
rs104894402
0.882 0.200 13 20189359 missense variant G/A;C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.720 1.000 0 2000 2001
dbSNP: rs104894407
rs104894407
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: rs104894408
rs104894408
0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs104894409
rs104894409
0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057516342
rs1057516342
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: rs1057516953
rs1057516953
0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057517303
rs1057517303
0.925 0.160 7 107710192 stop gained T/A;C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057517519
rs1057517519
0.925 0.120 13 20189523 missense variant A/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057517966
rs1057517966
0.925 0.160 3 69959325 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057518810
rs1057518810
7 107663430 missense variant T/C snv 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057518840
rs1057518840
2 26476319 splice acceptor variant T/C snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057518908
rs1057518908
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057519438
rs1057519438
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