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: rs180899529
rs180899529
EPS8
1 12 15669833 splice region variant T/C;G snv 2.7E-05; 9.1E-06 0.700 0
dbSNP: rs1564555240
rs1564555240
TMC1
1 9 72789319 splice donor variant T/C snv 0.700 0
dbSNP: rs1565430886
rs1565430886
MYO7A
1 11 77189430 missense variant T/C snv 0.700 0
dbSNP: rs1557458426
rs1557458426
CLCNKA
1 1 16033225 missense variant G/T snv 0.700 0
dbSNP: rs751242455
rs751242455
MYO7A
1 11 77204094 missense variant G/A;C snv 8.8E-06; 4.4E-05 0.700 0
dbSNP: rs773851192
rs773851192
TMC1
1 9 72789302 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1560690591
rs1560690591
GRXCR1
1 4 43020381 missense variant G/A snv 0.700 0
dbSNP: rs1564554255
rs1564554255
TMC1
1 9 72788399 stop gained G/A snv 0.700 0
dbSNP: rs1565522273
rs1565522273
TECTA
1 11 121125872 missense variant G/A snv 0.700 0
dbSNP: rs1565855932
rs1565855932
PTPRQ ; LOC105369867
1 12 80678601 splice acceptor variant G/A snv 0.700 0
dbSNP: rs767797828
rs767797828
USH2A ; LOC105372918
1 1 216199777 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1565127413
rs1565127413
OTOG
1 11 17633806 frameshift variant G/- del 0.700 0
dbSNP: rs1567939793
rs1567939793
USH1G
1 17 74920024 frameshift variant G/- delins 0.700 0
dbSNP: rs1564113368
rs1564113368
WHRN
1 9 114403925 frameshift variant CG/- del 0.700 0
dbSNP: rs1562822565
rs1562822565
SLC26A4
1 7 107672150 missense variant C/T snv 0.700 0
dbSNP: rs367688416
rs367688416
PJVK
1 2 178454526 stop gained C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs538027448
rs538027448
PJVK
1 2 178453567 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs746667217
rs746667217
MYO7A
1 11 77205503 missense variant C/G;T snv 6.4E-05 2.1E-05 0.700 0
dbSNP: rs761261855
rs761261855
TMC1
1 9 72816175 missense variant C/G;T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1562835391
rs1562835391
SLC26A4
1 7 107694400 splice region variant C/G snv 0.700 0
dbSNP: rs1248889536
rs1248889536
LOXHD1
1 18 46610789 stop gained C/A;T snv 7.0E-06 0.700 0
dbSNP: rs150529554
rs150529554
GJB2
1 13 20189227 stop gained C/A;T snv 4.0E-06; 1.0E-04 0.700 0
dbSNP: rs192378817
rs192378817
MYO7A
1 11 77183146 missense variant C/A;T snv 3.9E-05 1.5E-04 0.700 0
dbSNP: rs201866631
rs201866631
USH1G
4 0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 0
dbSNP: rs755804651
rs755804651
GPSM2 ; AKNAD1
1 1 108896945 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0