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: rs1057519374
rs1057519374
SEMA3D
1 1.000 0.120 7 85012812 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1553403917
rs1553403917
ALMS1
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs1555743003
rs1555743003
ASXL3
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs748718975
rs748718975
DPT
1 1.000 0.120 1 168696611 missense variant G/A snv 2.0E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs779027563
rs779027563
CNTNAP1
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs104894409
rs104894409
GJB2
6 0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 0.700 0
dbSNP: rs111033437
rs111033437
MYO7A
6 0.882 0.120 11 77179925 missense variant G/A;T snv 0.700 0
dbSNP: rs121912683
rs121912683
SLC25A4
9 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
11 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
dbSNP: rs1554218566
rs1554218566
MYO6
2 0.925 0.120 6 75890115 stop gained C/A snv 0.700 0
dbSNP: rs1564405163
rs1564405163
GATA3
6 0.807 0.280 10 8073746 missense variant G/C snv 0.700 0
dbSNP: rs1568523935
rs1568523935
SLC25A42
20 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
dbSNP: rs1569308571
rs1569308571
SMPX
1 1.000 0.120 X 21743794 frameshift variant -/T delins 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
7 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0
dbSNP: rs879253741
rs879253741
GJB2
3 0.882 0.200 13 20189516 missense variant C/A snv 0.700 0
dbSNP: rs111033405
rs111033405
OTOF
4 0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs121912968
rs121912968
GJB2
5 0.827 0.280 13 20189364 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1475711023
rs1475711023
STAT5B
1 1.000 0.120 17 42224855 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs201204631
rs201204631
IL18R1
1 1.000 0.120 2 102372000 missense variant A/C;G snv 7.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs202138002
rs202138002
P2RX2
3 0.882 0.120 12 132621535 missense variant G/A;C snv 1.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs28937588
rs28937588
KCNQ4
2 0.925 0.120 1 40819893 missense variant G/A;T snv 0.010 1.000 1 2014 2014
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 1999 1999