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: rs1046089
rs1046089
PRRC2A
4 0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40 0.700 1.000 1 2014 2014
dbSNP: rs10466455
rs10466455
LOC102723568
1 1.000 0.080 11 34759389 intergenic variant T/C snv 0.39 0.800 1.000 1 2014 2014
dbSNP: rs1048257
rs1048257
AHNAK2 ; PLD4
1 1.000 0.080 14 104938047 3 prime UTR variant T/C;G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10484399
rs10484399 		4 0.851 0.240 6 27566749 intergenic variant A/G snv 5.4E-02 0.700 1.000 1 2014 2014
dbSNP: rs1048801
rs1048801
LILRB4
1 1.000 0.080 19 54667913 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10488631
rs10488631
TNPO3
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.830 1.000 7 2008 2016
dbSNP: rs10489265
rs10489265
TNFSF4 ; LOC100506023
5 0.827 0.200 1 173266926 regulatory region variant A/C snv 0.21 0.720 1.000 3 2012 2013
dbSNP: rs104895257
rs104895257
TNFRSF1A
1 1.000 0.080 12 6333441 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1048971
rs1048971
CR2
4 0.851 0.160 1 207472977 synonymous variant G/A;T snv 0.34; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs10491322
rs10491322
PPP2CA
3 0.925 0.120 5 134194449 3 prime UTR variant A/G snv 9.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs1049564
rs1049564
PNP
6 0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 0.710 1.000 2 2015 2017
dbSNP: rs10496105
rs10496105
PELI1
1 1.000 0.080 2 64093612 3 prime UTR variant G/A snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs10498070
rs10498070 		2 0.925 0.080 2 219833404 intergenic variant A/C snv 0.39 0.700 1.000 1 2013 2013
dbSNP: rs10499194
rs10499194 		10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs10499197
rs10499197 		2 0.925 0.080 6 137811379 intergenic variant T/G snv 2.4E-02 0.700 1.000 1 2013 2013
dbSNP: rs1050499
rs1050499
FCGR2B
1 1.000 0.080 1 161673197 missense variant A/T snv 2.4E-03 4.4E-03 0.010 1.000 1 2007 2007
dbSNP: rs1050501
rs1050501
FCGR2B
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.100 1.000 16 2002 2019
dbSNP: rs1051169
rs1051169
S100B
5 0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs10515746
rs10515746
HAVCR2
2 0.925 0.240 5 157109557 intron variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10516487
rs10516487
BANK1
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.880 1.000 9 2008 2019
dbSNP: rs1051792
rs1051792
MICA
5 0.851 0.240 6 31411200 missense variant G/A snv 0.34 0.35 0.010 1.000 1 2011 2011
dbSNP: rs1052231
rs1052231
CD247
1 1.000 0.080 1 167430837 3 prime UTR variant T/A snv 0.82 0.010 1.000 1 2009 2009
dbSNP: rs1053874
rs1053874
DNASE1 ; TRAP1
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.030 0.667 3 2004 2013
dbSNP: rs1057108
rs1057108
CREM
1 1.000 0.080 10 35196021 5 prime UTR variant T/G snv 0.34 0.34 0.010 1.000 1 2015 2015
dbSNP: rs1059312
rs1059312
SLC15A4
1 1.000 0.080 12 128794319 synonymous variant A/G snv 0.44 0.43 0.700 1.000 2 2015 2017