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: rs145457535
rs145457535
CCDC103 ; FAM187A
6 0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03 0.020 1.000 2 2015 2018
dbSNP: rs116298211
rs116298211
AK7
4 0.882 0.160 14 96486941 missense variant T/C;G snv 1.5E-03 1.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs200395672
rs200395672
POC1B
2 0.925 0.120 12 89470461 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs368248592
rs368248592
DNAI1
2 1.000 0.120 9 34514436 missense variant G/A;T snv 7.6E-05; 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs373717036
rs373717036
CCDC40
1 1.000 0.120 17 80087766 missense variant G/A snv 5.6E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs397515414
rs397515414
HYDIN
3 0.882 0.160 16 71137272 stop gained T/A snv 0.010 1.000 1 2012 2012
dbSNP: rs587777779
rs587777779
CCDC151
3 0.882 0.160 19 11426182 stop gained C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs72552725
rs72552725
SLC22A5 ; MIR3936HG
3 0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs771663107
rs771663107
DNAH5
4 0.882 0.160 5 13865675 stop gained G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs886043448
rs886043448
DNAH5
4 0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2014 2014