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: rs12712127
rs12712127
IL1R1
3 2 102110201 intron variant A/G snv 0.62 0.800 1.000 1 2013 2013
dbSNP: rs1558643
rs1558643
IL1R1
1 2 102115231 intron variant T/C;G snv 0.700 1.000 2 2016 2017
dbSNP: rs11102001
rs11102001
GSTM5 ; EPS8L3
4 0.925 0.080 1 109757069 missense variant G/A snv 9.4E-02 0.16 0.700 1.000 1 2014 2014
dbSNP: rs7310615
rs7310615
SH2B3
12 0.882 12 111427245 intron variant C/G snv 0.67 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: rs4766897
rs4766897
ACAD10
1 12 111741667 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs6734238
rs6734238 		8 1.000 0.080 2 113083453 upstream gene variant A/G snv 0.39 0.800 1.000 3 2013 2017
dbSNP: rs2420915
rs2420915 		1 10 121080764 regulatory region variant G/A snv 0.25 0.700 1.000 1 2016 2016
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: rs1976714
rs1976714
PDIA5
1 3 123145924 intron variant G/T snv 0.32 0.700 1.000 2 2016 2017
dbSNP: rs16834024
rs16834024
PDIA5
1 3 123153306 intron variant G/A snv 5.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs270607
rs270607
SLC22A4 ; MIR3936HG
3 5 132313493 intron variant A/G snv 0.69 0.700 1.000 1 2011 2011
dbSNP: rs12777
rs12777
SLC22A4 ; MIR3936HG
6 5 132335969 synonymous variant C/G snv 3.1E-02 2.8E-02 0.800 1.000 2 2009 2016
dbSNP: rs10479002
rs10479002
SLC22A4 ; MIR3936HG
1 5 132335969 synonymous variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs2073643
rs2073643
SLC22A5
4 1.000 0.080 5 132387596 intron variant T/C snv 0.46 0.700 1.000 1 2011 2011
dbSNP: rs1016988
rs1016988 		4 5 132408882 upstream gene variant T/C snv 0.20 0.800 1.000 1 2009 2009
dbSNP: rs11242111
rs11242111
IRF1-AS1 ; LINC02863
3 5 132420366 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs2106854
rs2106854
IRF1-AS1
3 5 132433482 intron variant C/T snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs6874639
rs6874639
IRF1-AS1
3 5 132443024 intron variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs1012793
rs1012793
IRF1-AS1
1 5 132445653 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2522056
rs2522056
IRF1-AS1
4 5 132466034 intron variant G/A snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs2057655
rs2057655
IRF1-AS1
1 5 132471932 non coding transcript exon variant G/A snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs6873426
rs6873426
IRF1 ; IRF1-AS1
3 5 132482939 3 prime UTR variant G/T snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs17690122
rs17690122 		3 5 132532143 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs743562
rs743562 		3 5 132536691 intron variant C/T snv 0.35 0.700 1.000 1 2011 2011