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: rs549556142
rs549556142
CDC14A
2 0.925 0.120 1 100484347 stop gained C/A;T snv 1.6E-04; 4.1E-06 0.700 0
dbSNP: rs876661408
rs876661408
CDC14A
2 0.925 0.120 1 100484440 stop gained C/T snv 4.3E-06 0.700 0
dbSNP: rs3774937
rs3774937
NFKB1
9 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs4648011
rs4648011
NFKB1
1 1.000 0.120 4 102554287 intron variant G/T snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs61736451
rs61736451
ATP2B2
1 1.000 0.120 3 10359892 missense variant C/A;T snv 4.0E-06; 1.1E-02 0.010 1.000 1 2005 2005
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
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: rs1569492161
rs1569492161
COL4A5
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
dbSNP: rs281874674
rs281874674
COL4A5
8 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
dbSNP: rs772606235
rs772606235
TECTA
4 0.882 0.120 11 121137586 missense variant G/A;T snv 5.2E-05 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
dbSNP: rs796053353
rs796053353
STXBP1
6 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0
dbSNP: rs1057518895
rs1057518895
AIFM1 ; RAB33A
4 1.000 0.120 X 130137134 start lost A/G snv 0.700 0
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: 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: 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: rs876657776
rs876657776
DIAPH1
2 0.925 0.160 5 141524167 stop gained G/A snv 0.010 1.000 1 2016 2016
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: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs267606617
rs267606617
ND1 ; RNR1
1 1.000 0.120 MT 1555 non coding transcript exon variant A/G snv 0.010 1.000 1 2017 2017