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: rs1323852277
rs1323852277
WFS1
2 0.925 0.120 4 6301903 missense variant G/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs142668478
rs142668478
WFS1
2 0.925 0.120 4 6301849 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs28937893
rs28937893
WFS1
2 0.925 0.120 4 6301941 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs387906930
rs387906930
WFS1
8 0.790 0.360 4 6301846 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs387906931
rs387906931
WFS1
2 0.925 0.360 4 6302133 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs761976067
rs761976067
WFS1
1 1.000 0.120 4 6301377 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs35725509
rs35725509
TMTC2
2 0.925 0.120 12 82896304 missense variant G/A snv 1.0E-02 6.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs11096955
rs11096955
TLR10
5 0.851 0.200 4 38774486 missense variant T/C;G snv 4.3E-06; 0.41 0.010 1.000 1 2013 2013
dbSNP: rs121909063
rs121909063
TECTA
2 0.925 0.120 11 121168135 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs772606235
rs772606235
TECTA
4 0.882 0.120 11 121137586 missense variant G/A;T snv 5.2E-05 0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs796053353
rs796053353
STXBP1
6 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0
dbSNP: rs745927136
rs745927136
SLC9A1
1 1.000 0.120 1 27102734 missense variant G/A snv 4.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs111033256
rs111033256
SLC26A4
3 0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs121908361
rs121908361
SLC26A4
3 0.882 0.160 7 107689156 stop gained A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1564494285
rs1564494285
RET
6 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
dbSNP: rs1322366495
rs1322366495
PTPRQ ; LOC105369867
1 1.000 0.120 12 80649626 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs190166486
rs190166486
PTPRQ
1 1.000 0.120 12 80539915 missense variant A/G snv 1.6E-04 6.3E-05 0.010 1.000 1 2015 2015
dbSNP: rs1555741826
rs1555741826
PRR12
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs587781261
rs587781261
PRPS1
3 0.925 0.160 X 107640932 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263
PRPS1
5 0.925 0.240 X 107650000 missense variant G/T snv 0.700 1.000 1 2015 2015