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: rs10512597
rs10512597
CD300LF ; RAB37
4 17 74703694 intron variant T/A;C snv 0.800 1.000 3 2009 2017
dbSNP: rs10157379
rs10157379
NLRP3
3 1 247442297 intron variant C/G;T snv 0.800 1.000 2 2013 2016
dbSNP: rs11230201
rs11230201
MS4A4A ; MS4A4E
2 1.000 0.080 11 60229521 intron variant C/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs1476698
rs1476698
FARP2
3 2 241357034 intron variant A/G;T snv 0.800 1.000 2 2013 2017
dbSNP: rs1558643
rs1558643
IL1R1
1 2 102115231 intron variant T/C;G snv 0.700 1.000 2 2016 2017
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.700 1.000 2 2009 2013
dbSNP: rs4129267
rs4129267
IL6R
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.800 1.000 2 2011 2013
dbSNP: rs7012814
rs7012814 		2 8 9315848 intron variant G/A;T snv 0.700 1.000 2 2016 2017
dbSNP: rs7464572
rs7464572
PLEC ; MIR661
3 8 143946999 intron variant C/A;G snv 0.800 1.000 2 2013 2017
dbSNP: rs75347843
rs75347843
SHANK3
1 22 50673933 intron variant G/A;C;T snv 0.700 1.000 2 2016 2017
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.700 1.000 2 2009 2017
dbSNP: rs1012793
rs1012793
IRF1-AS1
1 5 132445653 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1019670
rs1019670
MS4A6A
1 11 60173126 missense variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs10479002
rs10479002
SLC22A4 ; MIR3936HG
1 5 132335969 synonymous variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs10489615
rs10489615
GALNT2
3 1 230169242 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10950690
rs10950690
SNX13
1 7 17941687 non coding transcript exon variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11242111
rs11242111
IRF1-AS1 ; LINC02863
3 5 132420366 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs12915708
rs12915708
SPPL2A
3 15 50756405 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs16844401
rs16844401
HGFAC
4 1.000 0.040 4 3447925 missense variant G/A;T snv 7.5E-02; 8.3E-06 0.800 1.000 1 2013 2013
dbSNP: rs17690122
rs17690122 		3 5 132532143 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2801231
rs2801231 		2 1.000 0.080 X 122083259 intergenic variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs35489971
rs35489971
CD300LF ; RAB37
2 1.000 0.040 17 74704804 missense variant A/G;T snv 0.73 0.700 1.000 1 2017 2017
dbSNP: rs4508864
rs4508864 		3 4 154560137 upstream gene variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4766897
rs4766897
ACAD10
1 12 111741667 intron variant T/A;C snv 0.700 1.000 1 2017 2017