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: rs10209110
rs10209110
AFF3
1 1.000 0.120 2 100056230 intron variant C/T snv 0.47 0.800 1.000 1 2012 2012
dbSNP: rs11123810
rs11123810
AFF3
2 0.925 0.200 2 100142823 intron variant T/C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs11123811
rs11123811
AFF3
1 1.000 0.120 2 100143710 intron variant T/C snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs6712515
rs6712515
AFF3
3 0.925 0.160 2 100190052 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs11676922
rs11676922
AFF3
4 0.925 0.160 2 100190478 intron variant T/A snv 0.51 0.800 1.000 2 2010 2014
dbSNP: rs9653442
rs9653442
LINC01104
2 1.000 0.120 2 100208905 intron variant C/T snv 0.46 0.800 1.000 2 2014 2019
dbSNP: rs1160542
rs1160542
LINC01104
1 1.000 0.120 2 100215693 intron variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs34619498
rs34619498
EMCN
1 1.000 0.120 4 100505575 intron variant T/C snv 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs3775369
rs3775369
EMCN
1 1.000 0.120 4 100512097 intron variant G/A snv 3.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs3783613
rs3783613
VCAM1
6 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 0.010 1.000 1 2009 2009
dbSNP: rs16910526
rs16910526
CLEC7A ; LOC105369655
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs10275421
rs10275421
LNCPRESS1
1 1.000 0.120 7 101299780 non coding transcript exon variant G/A snv 7.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs8029797
rs8029797
PCSK6
1 1.000 0.120 15 101365954 non coding transcript exon variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs678347
rs678347 		1 1.000 0.120 8 101451374 intron variant G/A;C snv 0.800 1.000 2 2014 2019
dbSNP: rs646514
rs646514 		1 1.000 0.120 8 101453833 upstream gene variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs17266594
rs17266594
BANK1
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.010 < 0.001 1 2009 2009
dbSNP: rs10516487
rs10516487
BANK1
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.020 0.500 2 2009 2017
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.030 1.000 3 2009 2017
dbSNP: rs12434439
rs12434439 		2 0.925 0.160 14 102068203 upstream gene variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3844283
rs3844283
IRAK2
3 0.882 0.200 3 10222796 missense variant C/G snv 0.37 0.35 0.010 1.000 1 2018 2018
dbSNP: rs708035
rs708035
IRAK2
2 0.925 0.120 3 10234479 missense variant T/A snv 0.73 0.70 0.010 1.000 1 2018 2018
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2012 2016
dbSNP: rs1241312324
rs1241312324
NFKB1
2 0.925 0.200 4 102567083 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs948138
rs948138
LOC101928477
1 1.000 0.120 11 102630934 downstream gene variant G/A snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.030 1.000 3 2001 2016