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: rs201257588
rs201257588
TBC1D24
9 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965
TBC1D24
13 0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966
TBC1D24
9 0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
9 0.882 0.280 16 2499425 splice region variant G/A snv 0.700 1.000 2 2014 2014
dbSNP: rs747821285
rs747821285
TBC1D24
9 0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06 0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
TBC1D24
9 0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
9 0.882 0.280 16 2498253 missense variant G/T snv 0.700 1.000 2 2014 2014
dbSNP: rs104894401
rs104894401
GJB2
4 0.851 0.120 13 20189154 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs138490803
rs138490803
COQ7
3 0.925 0.120 16 19074000 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1417146153
rs1417146153
SLC26A4
1 1.000 0.120 7 107710131 missense variant C/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs28938175
rs28938175
COCH ; LOC100506071
6 0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs431905517
rs431905517
SLC26A5
2 0.925 0.120 7 103413015 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs431905518
rs431905518
SLC26A5
2 0.925 0.120 7 103420821 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs797044484
rs797044484
TP63
10 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
dbSNP: rs80338950
rs80338950
GJB2
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs864321686
rs864321686
COQ7
3 0.925 0.120 16 19075775 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs137853066
rs137853066
KCNJ10
7 0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
dbSNP: rs1555575860
rs1555575860
COG4
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1555783467
rs1555783467
SLC52A3
6 0.882 0.120 20 761120 missense variant C/T snv 0.700 0
dbSNP: rs1556445736
rs1556445736
COL4A5
5 0.925 0.200 X 108667167 synonymous variant A/G snv 0.700 0
dbSNP: rs1564405163
rs1564405163
GATA3
6 0.807 0.280 10 8073746 missense variant G/C snv 0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs375761361
rs375761361
ACO2 ; POLR3H
9 0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs397507478
rs397507478
BRAF
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0