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: rs1564555185
rs1564555185
TMC1
2 1.000 0.120 9 72789306 frameshift variant -/A delins 0.700 0
dbSNP: rs1566528185
rs1566528185
GJB2
2 1.000 0.120 13 20188976 stop gained -/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC delins 0.700 0
dbSNP: rs1553904404
rs1553904404
DSPP
2 1.000 0.200 4 87615910 frameshift variant -/C ins 0.700 0
dbSNP: rs1567939718
rs1567939718
USH1G
1 17 74919981 frameshift variant -/C delins 0.700 0
dbSNP: rs1565331646
rs1565331646
ANAPC15 ; LRTOMT
2 1.000 0.120 11 72107947 frameshift variant -/CTCG delins 0.700 0
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1554362735
rs1554362735
SLC26A4
2 1.000 0.120 7 107710069 frameshift variant -/GCTGG delins 0.700 0
dbSNP: rs1554360678
rs1554360678
SLC26A4
2 1.000 0.120 7 107700115 frameshift variant -/T delins 0.700 0
dbSNP: rs1565519673
rs1565519673
TECTA
2 1.000 0.120 11 121118355 frameshift variant -/T ins 0.700 0
dbSNP: rs1564795354
rs1564795354
CDH23 ; MIR7152
2 1.000 0.120 10 71791147 frameshift variant -/TCAG delins 0.700 0
dbSNP: rs879253799
rs879253799
DCAF17
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1562835515
rs1562835515
SLC26A4
2 1.000 0.120 7 107694478 frameshift variant A/- delins 0.700 0
dbSNP: rs777476179
rs777476179
ALMS1
5 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0
dbSNP: rs80338942
rs80338942
GJB2
10 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 0
dbSNP: rs746427774
rs746427774
SLC26A4
2 1.000 0.120 7 107700155 frameshift variant A/-;AA delins 4.0E-06 0.700 0
dbSNP: rs1554360358
rs1554360358
SLC26A4
3 0.925 0.160 7 107698076 missense variant A/C snv 0.700 0
dbSNP: rs1554871816
rs1554871816
CDH23
2 1.000 0.120 10 71777711 missense variant A/C snv 0.700 0
dbSNP: rs35887622
rs35887622
GJB2
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.740 0.833 6 2001 2012
dbSNP: rs121908143
rs121908143
CLRN1 ; CLRN1-AS1
6 0.827 0.200 3 150972591 missense variant A/C;G snv 8.0E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs201660407
rs201660407
SLC26A4
3 0.925 0.160 7 107690236 missense variant A/C;G snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs758382198
rs758382198
CDH23
2 1.000 0.120 10 71778268 missense variant A/C;T snv 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs457717
rs457717
F2RL2 ; IQGAP2
1 5 76625147 intron variant A/G snv 0.65 0.810 1.000 2 2010 2016
dbSNP: rs80338945
rs80338945
GJB2
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.720 1.000 2 2005 2007
dbSNP: rs111033361
rs111033361
GJB2
1 13 20189355 missense variant A/G snv 2.0E-05 7.0E-06 0.010 1.000 1 2009 2009