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: rs1561299289
rs1561299289
MARVELD2
5 69432566 frameshift variant -/A delins
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1564805114
rs1564805114
CDH23
10 71807558 frameshift variant -/CGAT ins
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1558480402
rs1558480402
OTOF
2 26474022 frameshift variant -/T delins
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs762118583
rs762118583
CDH23 ; MIR7152
10 71791284 missense variant A/C snv 8.0E-06 7.0E-06
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1558490542
rs1558490542
OTOF
2 26482435 missense variant A/G snv
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1565469959
rs1565469959
MYO7A
11 77203220 splice region variant A/G snv
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs74315437
rs74315437
CLDN14 ; LOC105369301
1.000 21 36461442 missense variant A/G;T snv 4.0E-06; 2.0E-05
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1562817529
rs1562817529
SLC26A4 ; SLC26A4-AS1
7 107661795 stop gained A/T snv
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1559870857
rs1559870857
ILDR1
3 121993587 frameshift variant AA/- del
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1559366084
rs1559366084
PJVK
2 178453569 frameshift variant ACCTTTTACAC/- delins
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1565819402
rs1565819402
PTPRQ ; LOC105369867
12 80613829 frameshift variant AT/- delins
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1562817224
rs1562817224
SLC26A4 ; SLC26A4-AS1
7 107661680 frameshift variant C/- delins
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs755804651
rs755804651
GPSM2 ; AKNAD1
1 108896945 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1248889536
rs1248889536
LOXHD1
18 46610789 stop gained C/A;T snv 7.0E-06
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs150529554
rs150529554
GJB2
13 20189227 stop gained C/A;T snv 4.0E-06; 1.0E-04
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs192378817
rs192378817
MYO7A
11 77183146 missense variant C/A;T snv 3.9E-05 1.5E-04
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs201866631
rs201866631
USH1G
0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1562835391
rs1562835391
SLC26A4
7 107694400 splice region variant C/G snv
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs538027448
rs538027448
PJVK
2 178453567 stop gained C/G;T snv 4.0E-06
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs746667217
rs746667217
MYO7A
11 77205503 missense variant C/G;T snv 6.4E-05 2.1E-05
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs761261855
rs761261855
TMC1
9 72816175 missense variant C/G;T snv 1.2E-05 7.0E-06
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1562822565
rs1562822565
SLC26A4
7 107672150 missense variant C/T snv
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs367688416
rs367688416
PJVK
2 178454526 stop gained C/T snv 1.6E-05 1.4E-05
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1564113368
rs1564113368
WHRN
9 114403925 frameshift variant CG/- del
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1565127413
rs1565127413
OTOG
11 17633806 frameshift variant G/- del
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0