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: rs1054037
rs1054037
MANBA
1 1.000 0.080 4 102631552 3 prime UTR variant C/A;T snv 0.800 1.000 3 2011 2015
dbSNP: rs243325
rs243325
RMI2 ; LOC105371082
1 1.000 0.080 16 11260640 intron variant T/C snv 0.38 0.710 1.000 3 2012 2012
dbSNP: rs3745516
rs3745516
SPIB
2 0.925 0.080 19 50423485 intron variant A/G snv 0.62 0.800 1.000 3 2010 2015
dbSNP: rs485499
rs485499
LINC01100 ; IL12A-AS1
2 0.925 0.080 3 160028076 intron variant T/C snv 0.29 0.800 1.000 3 2011 2015
dbSNP: rs12935413
rs12935413
CLEC16A
3 1.000 0.080 16 11116590 intron variant G/A snv 0.34 0.700 1.000 2 2011 2012
dbSNP: rs2297067
rs2297067
EXOC3L4
2 1.000 0.080 14 103100448 missense variant C/T snv 0.22 0.20 0.800 1.000 2 2011 2015
dbSNP: rs243323
rs243323
RMI2 ; LOC105371082
1 1.000 0.080 16 11267345 intron variant A/C;G;T snv 0.700 1.000 2 2012 2012
dbSNP: rs2866413
rs2866413
MANBA
1 1.000 0.080 4 102635920 missense variant G/A;C snv 0.54; 2.4E-05 0.700 1.000 2 2011 2012
dbSNP: rs3732421
rs3732421
TMEM39A
1 1.000 0.080 3 119431242 3 prime UTR variant A/G snv 0.15 0.800 1.000 2 2011 2017
dbSNP: rs3771317
rs3771317
NAB1
1 1.000 0.080 2 190679236 intron variant T/C;G snv 0.800 1.000 2 2011 2015
dbSNP: rs4149581
rs4149581
TNFRSF1A
1 1.000 0.080 12 6337819 intron variant T/A;C snv 0.700 1.000 2 2011 2012
dbSNP: rs4938534
rs4938534
POU2AF1 ; BTG4
2 0.925 0.080 11 111404408 intron variant G/A snv 0.56 0.810 1.000 2 2012 2017
dbSNP: rs4952108
rs4952108 		1 1.000 0.080 2 30206869 upstream gene variant C/A;T snv 0.800 1.000 2 2011 2015
dbSNP: rs545143
rs545143
IL12A-AS1
1 1.000 0.080 3 160014208 intron variant C/A;T snv 0.41 0.700 1.000 2 2012 2012
dbSNP: rs582537
rs582537
IL12A ; IL12A-AS1
1 1.000 0.080 3 159992311 intron variant A/C;G snv 0.800 1.000 2 2012 2017
dbSNP: rs6441286
rs6441286
IL12A-AS1
2 0.925 0.080 3 160011091 intron variant T/G snv 0.36 0.800 1.000 2 2009 2010
dbSNP: rs7117261
rs7117261 		1 1.000 0.080 11 118870448 regulatory region variant T/A;C snv 0.80 0.700 1.000 2 2012 2012
dbSNP: rs715505
rs715505
SYNGR1
1 1.000 0.080 22 39355246 intron variant G/C snv 0.21 0.700 1.000 2 2012 2012
dbSNP: rs72678531
rs72678531
IL12RB2
1 1.000 0.080 1 67332762 intron variant T/C snv 0.17 0.800 1.000 2 2012 2012
dbSNP: rs860413
rs860413 		2 0.925 0.080 5 35942940 upstream gene variant A/C snv 0.23 0.800 1.000 2 2011 2015
dbSNP: rs1003643
rs1003643 		1 1.000 0.080 22 39280489 downstream gene variant T/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs1003644
rs1003644 		1 1.000 0.080 22 39280739 downstream gene variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs1005999
rs1005999 		1 1.000 0.080 2 104907333 intron variant C/T snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1008591
rs1008591 		1 1.000 0.080 19 46227357 upstream gene variant A/G snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs1011082
rs1011082
GSDMB
1 1.000 0.080 17 39912261 intron variant T/A;C snv 0.700 1.000 1 2012 2012