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: rs1562835391
rs1562835391
SLC26A4
7 107694400 splice region variant C/G snv
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: rs1562817529
rs1562817529
SLC26A4 ; SLC26A4-AS1
7 107661795 stop gained A/T snv
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1565522273
rs1565522273
TECTA
11 121125872 missense variant G/A snv
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1564554255
rs1564554255
TMC1
9 72788399 stop gained G/A snv
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1564555240
rs1564555240
TMC1
9 72789319 splice donor variant T/C snv
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: rs773851192
rs773851192
TMC1
9 72789302 stop gained G/A;C snv 4.0E-06
CUI: C0011053
Disease: Deafness
Deafness 		0.700 0
dbSNP: rs1567939793
rs1567939793
USH1G
17 74920024 frameshift variant G/- delins
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: rs767797828
rs767797828
USH2A ; LOC105372918
1 216199777 stop gained G/A snv 4.0E-06
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