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: 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: rs74315319
rs74315319
GJB3 ; SMIM12 ; LOC105378642
2 1.000 0.120 1 34785300 stop gained C/T snv 8.8E-05 3.5E-05 0.020 1.000 2 2005 2017
dbSNP: rs80338902
rs80338902
USH2A
10 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.020 1.000 2 2015 2018
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2011 2011
dbSNP: rs28937583
rs28937583
GJB3 ; SMIM12 ; LOC105378642
3 0.925 0.080 1 34784863 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs74315318
rs74315318
GJB3 ; SMIM12 ; LOC105378642
3 0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04 0.010 1.000 1 2005 2005
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs111033364
rs111033364
USH2A
7 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1557659237
rs1557659237
GJB3 ; SMIM12 ; LOC105378642
2 1.000 0.120 1 34784770 stop gained G/A snv 0.700 0
dbSNP: rs28939710
rs28939710
KCNQ4
2 1.000 0.120 1 40820180 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs371777049
rs371777049
USH2A
2 1.000 1 216325540 missense variant C/T snv 3.6E-05 3.5E-05 0.700 0
dbSNP: rs397518011
rs397518011
USH2A ; LOC105372918
3 0.925 0.200 1 216207280 stop gained G/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs41308425
rs41308425
USH2A
3 0.925 0.200 1 215837990 splice donor variant C/G snv 1.6E-05 0.700 0
dbSNP: rs754472294
rs754472294
ESPN
2 1.000 1 6460077 frameshift variant C/- del 4.0E-06 0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
11 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs781984979
rs781984979
PEX11B
11 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs797045128
rs797045128
SF3B4
3 1.000 0.120 1 149925922 frameshift variant GGG/-;GG;GGGG delins 0.700 0
dbSNP: rs111706634
rs111706634
PJVK
4 0.882 0.120 2 178456149 missense variant C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1316191911
rs1316191911
PJVK
1 2 178461239 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs2075252
rs2075252
LRP2
5 0.925 0.160 2 169154475 stop gained T/A;C snv 0.76 0.010 1.000 1 2008 2008
dbSNP: rs4668123
rs4668123
LRP2
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs80356590
rs80356590
OTOF
2 1.000 0.120 2 26479356 stop gained G/A;T snv 3.6E-05; 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs879253799
rs879253799
DCAF17
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016