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: rs145039212
rs145039212
MPZ
1 1.000 0.040 1 161306839 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs149939201
rs149939201
NOD2
1 1.000 0.040 16 50697279 synonymous variant G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs1555791
rs1555791
LOC100996583
1 1.000 0.040 1 2567423 intron variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1595825
rs1595825
PLCL1
1 1.000 0.040 2 198010740 intron variant G/A snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs16940186
rs16940186 		1 1.000 0.040 16 85976134 intron variant T/C snv 0.17 0.800 1.000 1 2013 2013
dbSNP: rs17130
rs17130
PTPRS
1 1.000 0.040 19 5254959 intron variant T/C snv 0.32 0.010 1.000 1 2007 2007
dbSNP: rs17154444
rs17154444
SLC26A3
1 1.000 0.040 7 107795423 intron variant T/C snv 4.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs17188113
rs17188113
TRIM10 ; TRIM15
1 1.000 0.040 6 30163346 5 prime UTR variant T/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs17207986
rs17207986
TNXB
1 1.000 0.040 6 32111790 non coding transcript exon variant T/C;G snv 0.810 1.000 1 2010 2010
dbSNP: rs17736589
rs17736589
CYTH1
1 1.000 0.040 17 78741036 intron variant A/G snv 0.15 0.700 1.000 1 2015 2015
dbSNP: rs17771967
rs17771967 		1 1.000 0.040 19 54868759 downstream gene variant A/G snv 0.42 0.700 1.000 1 2015 2015
dbSNP: rs1792671
rs1792671
SMAD2
1 1.000 0.040 18 47835823 3 prime UTR variant T/C snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs1830610
rs1830610 		1 1.000 0.040 9 5260079 intergenic variant C/G;T snv 0.710 1.000 1 2016 2016
dbSNP: rs200349593
rs200349593
NXPE1 ; NXPE2
1 1.000 0.040 11 114526440 intron variant -/C;CCACTCTCTTCCTC ins 0.700 1.000 1 2017 2017
dbSNP: rs2228054
rs2228054
IL10RA
1 1.000 0.040 11 117993398 synonymous variant G/A snv 8.3E-02 5.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs2232360
rs2232360
IL20
1 1.000 0.040 1 206867314 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2236851
rs2236851
RUNX3
1 1.000 0.040 1 24917063 intron variant C/T snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs2241877
rs2241877
ATG16L1
1 1.000 0.040 2 233277843 intron variant A/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs224223
rs224223
MEFV
1 1.000 0.040 16 3254573 synonymous variant G/T snv 0.43 0.48 0.010 1.000 1 2009 2009
dbSNP: rs224225
rs224225
MEFV
1 1.000 0.040 16 3254762 synonymous variant A/G snv 0.44 0.48 0.010 1.000 1 2009 2009
dbSNP: rs2243193
rs2243193
IL19 ; LOC105372878
1 1.000 0.040 1 206842880 3 prime UTR variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2359952
rs2359952
PTPRC
1 1.000 0.040 1 198687278 intron variant A/G snv 0.37 0.800 1.000 1 2015 2015
dbSNP: rs2457996
rs2457996 		1 1.000 0.040 4 73990818 upstream gene variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs254562
rs254562
C5orf66
1 1.000 0.040 5 135105767 intron variant A/G snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs267939
rs267939
DAP
1 1.000 0.040 5 10752203 intron variant C/T snv 0.50 0.800 1.000 1 2011 2011