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: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2006 2006
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs4586
rs4586
CCL2
8 0.790 0.280 17 34256250 synonymous variant T/C snv 0.44 0.48 0.010 1.000 1 2007 2007
dbSNP: rs4720262
rs4720262
NME8 ; EPDR1
1 1.000 0.040 7 37849025 5 prime UTR variant C/T snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs585017
rs585017
RHOB
1 1.000 0.040 2 20446871 upstream gene variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs912428
rs912428
LRCH1
2 0.925 0.040 13 46593768 intron variant A/G snv 0.84 0.010 1.000 1 2008 2008
dbSNP: rs1459997671
rs1459997671
MMP9
3 0.882 0.120 20 46010963 synonymous variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2009 2009
dbSNP: rs7639618
rs7639618
COL6A4P1
3 0.882 0.080 3 15174922 non coding transcript exon variant C/T snv 0.22 0.18 0.010 1.000 1 2009 2009
dbSNP: rs9864422
rs9864422
COL6A4P1
2 0.925 0.080 3 15185745 intron variant C/T snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs10947262
rs10947262
BTNL2 ; TSBP1-AS1
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.810 1.000 2 2010 2010
dbSNP: rs7775228
rs7775228 		7 0.790 0.360 6 32690302 TF binding site variant T/C snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 < 0.001 1 2011 2011
dbSNP: rs8065080
rs8065080
TRPV1
11 0.827 0.200 17 3577153 missense variant T/C snv 0.37 0.32 0.010 1.000 1 2011 2011
dbSNP: rs17039192
rs17039192
EPAS1
4 0.851 0.120 2 46297441 5 prime UTR variant C/T snv 1.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs900414
rs900414
PCSK6
1 1.000 0.040 15 101314378 intron variant A/G snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs2857657
rs2857657
CCL2
1 1.000 0.040 17 34256113 non coding transcript exon variant G/C snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs3775290
rs3775290
TLR3
15 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs3775296
rs3775296
TLR3
6 0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18 0.010 1.000 1 2013 2013
dbSNP: rs419598
rs419598
IL1RN
13 0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21 0.010 1.000 1 2013 2013
dbSNP: rs10174098
rs10174098
ITGAV
3 0.882 0.200 2 186628015 intron variant G/A snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs12459350
rs12459350
DOT1L
3 0.925 0.200 19 2176587 intron variant A/G snv 0.46 0.010 < 0.001 1 2014 2014
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs12982744
rs12982744
DOT1L
4 0.925 0.040 19 2177194 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014