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: 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: rs762356974
rs762356974
DIAPH1
1 1.000 0.120 5 141573742 missense variant G/A;C;T snv 1.6E-05; 2.2E-05; 2.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs775146972
rs775146972
DIAPH1
1 1.000 0.120 5 141573787 missense variant G/A;C snv 6.8E-06 0.010 1.000 1 2008 2008
dbSNP: rs876657776
rs876657776
DIAPH1
2 0.925 0.160 5 141524167 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121912557
rs121912557
MYO6
4 0.882 0.120 6 75857198 missense variant G/A snv 0.020 1.000 2 2004 2019
dbSNP: rs1176235580
rs1176235580
MTO1
3 0.925 0.120 6 73482214 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs139449947
rs139449947
MTO1
3 0.925 0.120 6 73482463 missense variant G/A snv 9.6E-05 9.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs1471362858
rs1471362858
EYA4
3 0.882 0.120 6 133462408 missense variant G/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs745434198
rs745434198
COL11A2
1 1.000 0.120 6 33165983 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs10258719
rs10258719
ATP6V0A4
2 0.925 0.280 7 138771243 missense variant A/C;G;T snv 0.69 0.010 1.000 1 2014 2014
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: 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: rs775097398
rs775097398
EYA1
2 0.925 0.120 8 71216713 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs200455852
rs200455852
ASAH1
6 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
dbSNP: rs1057517694
rs1057517694
CEP78
3 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517695
rs1057517695
CEP78
3 0.882 0.200 9 78241729 frameshift variant T/- delins 0.700 0
dbSNP: rs796053353
rs796053353
STXBP1
6 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0
dbSNP: rs1250745641
rs1250745641
CDH23
1 1.000 0.120 10 71807866 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs758723288
rs758723288
ECHS1
4 0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1564494285
rs1564494285
RET
6 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
dbSNP: rs121909063
rs121909063
TECTA
2 0.925 0.120 11 121168135 missense variant C/A;T snv 0.010 1.000 1 2006 2006