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: rs353163
rs353163
4 0.882 0.080 4 67919056 missense variant T/A;C;G snv 0.67 0.020 1.000 2 2006 2013
dbSNP: rs10002268
rs10002268
1 1.000 0.080 4 55653725 intergenic variant T/C snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs10058728
rs10058728
2 1.000 0.080 5 149524529 intron variant A/T snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs1014867
rs1014867
3 0.925 0.080 4 125491736 missense variant C/T snv 4.9E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1039808
rs1039808
3 0.925 0.080 4 125318831 missense variant C/G;T snv 4.0E-06; 0.41 0.010 1.000 1 2013 2013
dbSNP: rs10484761
rs10484761
7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs10509670
rs10509670
5 0.851 0.080 10 94308190 intron variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs10786161
rs10786161
1 1.000 0.080 10 94347914 intron variant C/T snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs10821515
rs10821515
SYK
1 1.000 0.080 9 90862614 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10882424
rs10882424
1 1.000 0.080 10 94326321 intron variant T/G snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs10882430
rs10882430
1 1.000 0.080 10 94330915 3 prime UTR variant A/G snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs11066008
rs11066008
1 1.000 0.080 12 111702865 intron variant A/G snv 9.1E-03 0.700 1.000 1 2011 2011
dbSNP: rs11184738
rs11184738
1 1.000 0.080 1 106056773 intron variant G/A snv 7.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs11187844
rs11187844
1 1.000 0.080 10 94296872 intron variant C/A snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs11187853
rs11187853
1 1.000 0.080 10 94312471 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11187876
rs11187876
1 1.000 0.080 10 94330382 3 prime UTR variant C/T snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs11265282
rs11265282
1 1.000 0.080 1 159804618 intron variant T/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs11473
rs11473
BSG
4 0.882 0.080 19 582982 3 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11548103
rs11548103
4 0.882 0.080 1 153615864 splice region variant C/T snv 0.40 0.39 0.010 1.000 1 2017 2017
dbSNP: rs11934363
rs11934363
1 1.000 0.080 4 9910477 intron variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs12508222
rs12508222
3 0.925 0.080 4 125449492 missense variant G/A;T snv 4.3E-02; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs12542990
rs12542990
1 1.000 0.080 8 81122216 intergenic variant G/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs13016963
rs13016963
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs13054361
rs13054361
1 1.000 0.080 22 38336819 intron variant G/A snv 9.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs1364898025
rs1364898025
ATM
3 0.925 0.080 11 108227656 missense variant G/A snv 0.010 1.000 1 1998 1998