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: rs13091753
rs13091753
LPP
2 1.000 0.040 3 188396801 intron variant G/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs148136154
rs148136154 		1 1.000 0.040 3 119564621 intergenic variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1559810
rs1559810
LPP
2 1.000 0.040 3 188406566 intron variant C/A snv 0.36 0.700 1.000 1 2010 2010
dbSNP: rs17008723
rs17008723
FOXP1
2 0.925 0.040 3 71523984 intron variant T/G snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs34346645
rs34346645
FOXP1
1 1.000 0.040 3 71508794 intron variant C/A snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs35161626
rs35161626
UBE2E2
1 1.000 0.040 3 23470822 intron variant A/- del 0.64 0.700 1.000 1 2016 2016
dbSNP: rs6583331
rs6583331 		1 1.000 0.040 3 196620382 intergenic variant T/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs9851967
rs9851967
LPP
2 1.000 0.040 3 188369840 intron variant C/T snv 0.35 0.800 1.000 1 2013 2013
dbSNP: rs1031034
rs1031034
PPP3CA
1 1.000 0.040 4 101302229 intron variant C/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs11940117
rs11940117
CLNK
2 0.925 0.040 4 10725083 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs13136820
rs13136820
LINC02265
1 1.000 0.040 4 40305547 intergenic variant C/T snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs16872571
rs16872571
CLNK
2 0.925 0.080 4 10725229 intergenic variant C/T snv 0.33 0.800 1.000 1 2012 2012
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs887303970
rs887303970
SOD3
10 0.776 0.280 4 24799565 missense variant C/T snv 8.8E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2019 2019
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs251464
rs251464
PPARGC1B
5 0.851 0.080 5 149816671 intron variant G/C snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs9468925
rs9468925
HLA-B
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.820 1.000 3 2010 2012
dbSNP: rs1135216
rs1135216
PSMB9 ; TAP1
6 0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18 0.020 0.500 2 2014 2017
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.810 0.500 2 2010 2013
dbSNP: rs12206499
rs12206499
HLA-A
1 1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27 0.700 1.000 2 2011 2012
dbSNP: rs13208776
rs13208776
SMOC2
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.810 0.500 2 2010 2011
dbSNP: rs3806156
rs3806156
BTNL2 ; TSBP1-AS1
5 0.827 0.280 6 32405921 intron variant G/A;T snv 0.800 1.000 2 2010 2012
dbSNP: rs532098
rs532098
HLA-DRB1
3 0.882 0.120 6 32610275 intergenic variant G/A snv 0.43 0.700 1.000 2 2010 2012
dbSNP: rs6902119
rs6902119
FGFR1OP
3 0.882 0.160 6 167092303 intron variant T/C;G snv 0.700 1.000 2 2010 2012