Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517966
rs1057517966
MITF
3 0.925 0.160 3 69959325 stop gained C/T snv 0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs1057519438
rs1057519438
CDK20
4 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs111033297
rs111033297
GJB2
2 1.000 0.120 13 20189413 stop gained G/A snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs111033335
rs111033335
GJB2
2 1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins 0.700 0
dbSNP: rs111033364
rs111033364
USH2A
7 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 0
dbSNP: rs111033380
rs111033380
SLC26A4
2 1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1187168418
rs1187168418
TPRN
2 1.000 0.120 9 137199553 stop gained C/A;G snv 0.700 0
dbSNP: rs1209665716
rs1209665716
MYO15A ; LOC105371566
2 1.000 0.120 17 18135798 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1244688796
rs1244688796
KCNE1
3 0.925 0.200 21 34449584 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1284633493
rs1284633493
SLC26A4
2 1.000 0.120 7 107694478 stop gained A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1344509500
rs1344509500
CDH23
2 1.000 0.120 10 71810017 stop gained G/T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs137853001
rs137853001
PCDH15
3 0.925 0.200 10 54664256 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs138385061
rs138385061
ERCC3
2 1.000 0.160 2 127289763 stop gained G/A;C snv 1.6E-05; 8.0E-06 0.700 0
dbSNP: rs1403112959
rs1403112959
OTOF
2 1.000 0.120 2 26482563 stop gained A/T snv 0.700 0
dbSNP: rs1445287184
rs1445287184
PTPRQ ; LOC105369867
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs1454033665
rs1454033665
POU3F4 ; LOC107985635
2 1.000 0.160 X 83508494 stop gained G/A snv 0.700 0
dbSNP: rs147321712
rs147321712
OTOF
2 1.000 0.120 2 26466731 stop gained G/A;T snv 2.3E-04 0.700 0
dbSNP: rs147682682
rs147682682
MITF
4 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1477766714
rs1477766714
OTOGL
2 1.000 12 80339241 stop gained C/G;T snv 0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1554581757
rs1554581757
CHD7
4 0.882 0.120 8 60742945 stop gained C/T snv 0.700 0
dbSNP: rs1555543432
rs1555543432
MYO15A ; LOC105371566
2 1.000 0.120 17 18136429 stop gained G/A;T snv 0.700 0
dbSNP: rs1557659237
rs1557659237
GJB3 ; SMIM12 ; LOC105378642
2 1.000 0.120 1 34784770 stop gained G/A snv 0.700 0
dbSNP: rs1558482554
rs1558482554
OTOF
2 1.000 0.120 2 26475916 stop gained C/A snv 0.700 0