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: rs751989516
rs751989516
PHC1
2 1.000 12 8932951 synonymous variant C/T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs7720606
rs7720606 		2 1.000 0.080 5 127216040 intron variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs786204585
rs786204585
HEXA
6 0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs797044960
rs797044960
SIX1 ; MIR9718
3 0.925 0.200 14 60648817 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs80338828
rs80338828
MYH9
6 0.851 0.200 22 36305975 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs879253799
rs879253799
DCAF17
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs929413725
rs929413725
PRKCG
2 1.000 19 53884181 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057517303
rs1057517303
SLC26A4
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 0
dbSNP: rs1057517519
rs1057517519
GJB2
3 0.925 0.120 13 20189523 missense variant A/G snv 0.700 0
dbSNP: rs1057517966
rs1057517966
MITF
3 0.925 0.160 3 69959325 stop gained C/T snv 0.700 0
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057518810
rs1057518810
SLC26A4 ; SLC26A4-AS1
1 7 107663430 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs1057518840
rs1057518840
OTOF
1 2 26476319 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
6 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1060499791
rs1060499791
CDH23
2 1.000 0.120 10 71617295 missense variant C/T snv 0.700 0
dbSNP: rs111033253
rs111033253
GJB2
4 0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-04 0.700 0
dbSNP: rs111033318
rs111033318
SLC26A4
3 0.925 0.160 7 107702050 missense variant T/A snv 0.700 0
dbSNP: rs111033335
rs111033335
GJB2
2 1.000 0.120 13 20188982 stop gained TCCAGACAC/GAATGTCATGAACACTG delins 0.700 0
dbSNP: rs1131692230
rs1131692230
PDHA1
9 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
6 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
dbSNP: rs1187168418
rs1187168418
TPRN
2 1.000 0.120 9 137199553 stop gained C/A;G snv 0.700 0
dbSNP: rs1207102900
rs1207102900
OTOF
2 1.000 0.120 2 26460027 stop lost A/G snv 0.700 0
dbSNP: rs121908364
rs121908364
SLC26A4
3 0.925 0.160 7 107689166 missense variant C/T snv 0.700 0