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: rs41295061
rs41295061 		8 0.790 0.360 10 6072697 upstream gene variant C/A snv 6.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2010 2010
dbSNP: rs17612648
rs17612648
PTPRC
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs4744411
rs4744411
AOPEP ; LOC101928119
3 0.925 0.040 9 94926763 intron variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6498142
rs6498142
CLEC16A
3 16 10987392 intron variant C/G snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs6960920
rs6960920 		3 0.925 0.040 7 44376473 downstream gene variant G/C;T snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs734930
rs734930
AUTS2
3 0.925 0.040 7 70555174 intron variant T/C snv 0.53 0.010 1.000 1 2010 2010
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.020 1.000 2 2011 2011
dbSNP: rs113994136
rs113994136
STAT3
7 0.827 0.240 17 42329642 missense variant C/A;T snv 0.020 1.000 2 2011 2011
dbSNP: rs13151961
rs13151961
KIAA1109
7 0.827 0.200 4 122194347 intron variant A/G snv 0.11 0.710 1.000 2 2010 2011
dbSNP: rs1020388
rs1020388 		2 5 56264200 upstream gene variant T/G snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs10272724
rs10272724 		4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs10460003
rs10460003
LINC01882
2 18 12747013 intron variant C/T snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs10488631
rs10488631
TNPO3
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs10752747
rs10752747
MMEL1
2 1 2593476 intron variant G/T snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs10806425
rs10806425
BACH2
6 0.851 0.280 6 90216893 intron variant C/A snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs10892258
rs10892258
LOC105369519
4 0.925 0.120 11 118709156 intron variant G/A snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs10892279
rs10892279 		3 1.000 0.120 11 118741072 intron variant G/A;T snv 0.25 0.800 1.000 1 2011 2011
dbSNP: rs10892286
rs10892286
DDX6
2 11 118771376 intron variant A/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs10903122
rs10903122 		5 0.882 0.200 1 24977085 intergenic variant A/G snv 0.56 0.700 1.000 1 2011 2011
dbSNP: rs10932019
rs10932019 		2 2 203764087 downstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11043097
rs11043097
LINC02752
2 11 11114248 intron variant T/C snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs11203203
rs11203203
UBASH3A
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.800 1.000 1 2011 2011