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: rs11887120
rs11887120
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 < 0.001 1 2016 2016
dbSNP: rs1206642175
rs1206642175
3 0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121434610
rs121434610
SMS
2 0.882 0.120 X 21967312 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121912456
rs121912456
5 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1255998
rs1255998
6 0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030
5 0.827 0.240 14 64280452 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1256065
rs1256065
3 0.925 0.120 14 64232214 3 prime UTR variant G/T snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs13133980
rs13133980
1 1.000 0.040 4 41000929 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1329650
rs1329650
4 0.882 0.080 10 91588363 regulatory region variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs13333659
rs13333659
2 1.000 0.040 16 88972472 intron variant G/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs13388459
rs13388459
1 1.000 0.040 2 76988371 intron variant C/T snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs140701
rs140701
7 0.790 0.200 17 30211514 intron variant C/T snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs1557372
rs1557372
2 1.000 0.040 21 41460614 downstream gene variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2018 2018
dbSNP: rs1625579
rs1625579
11 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs16947151
rs16947151
4 0.882 0.080 17 49213276 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs17518584
rs17518584
5 0.827 0.160 3 85555773 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs17746510
rs17746510
5 0.882 0.080 2 173019562 intron variant T/C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs179363901
rs179363901
3 0.882 0.120 X 154097661 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 < 0.001 1 2015 2015
dbSNP: rs1938526
rs1938526
2 0.882 0.040 10 60540625 intron variant A/G snv 8.3E-02 0.010 1.000 1 2014 2014