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: 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: 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: rs4946936
rs4946936
FOXO3
8 0.790 0.160 6 108682118 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs4308124
rs4308124
MIR4435-2HG
1 1.000 0.040 2 111252909 intron variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs10774624
rs10774624
LINC02356
6 0.882 0.160 12 111395984 intron variant G/A snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs4766578
rs4766578
ATXN2
8 0.851 0.200 12 111466567 intron variant T/A snv 0.66 0.800 1.000 1 2012 2012
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs2234663
rs2234663
IL1RN
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2018 2018
dbSNP: rs3814231
rs3814231
CASP7
1 1.000 0.040 10 113721259 intron variant C/T snv 0.23 0.800 1.000 1 2012 2012
dbSNP: rs12771452
rs12771452
CASP7
1 1.000 0.040 10 113728572 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs4353229
rs4353229
CASP7
6 0.807 0.160 10 113729830 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.860 0.900 10 2005 2018
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2020
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs638893
rs638893 		4 0.882 0.080 11 118827828 intergenic variant G/A snv 0.79 0.820 1.000 2 2013 2017
dbSNP: rs523604
rs523604
CXCR5
3 0.882 0.120 11 118885029 intron variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs613791
rs613791
CXCR5
2 0.925 0.040 11 118893342 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs148136154
rs148136154 		1 1.000 0.040 3 119564621 intergenic variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs59374417
rs59374417 		2 0.925 0.040 3 119569567 intergenic variant A/C;T snv 0.810 1.000 2 2012 2015
dbSNP: rs10986311
rs10986311
NEK6
1 1.000 0.040 9 124309214 intron variant T/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs561079
rs561079
FLI1
1 1.000 0.040 11 128762660 intron variant T/C snv 0.37 0.700 1.000 1 2016 2016