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: rs10484561
rs10484561 		6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.770 1.000 7 2010 2014
dbSNP: rs6457327
rs6457327 		7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.750 1.000 5 2009 2014
dbSNP: rs2647012
rs2647012 		7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.740 0.750 4 2011 2014
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2015 2016
dbSNP: rs3117222
rs3117222
HLA-DPA2
3 0.882 0.280 6 33093172 intron variant C/T snv 0.33 0.720 1.000 2 2012 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2009 2013
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1159838942
rs1159838942
RAG1
1 1.000 0.120 11 36574757 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs13198610
rs13198610 		1 1.000 0.120 6 32457895 downstream gene variant G/T snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs13254990
rs13254990
PVT1
4 0.882 0.120 8 128064205 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1392080411
rs1392080411
KLF2
5 0.827 0.160 19 16325934 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1493202
rs1493202
XKR9
1 1.000 0.120 8 70993352 intron variant T/G snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs17749561
rs17749561 		2 0.925 0.120 18 63115978 intergenic variant G/A snv 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs2621416
rs2621416 		4 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs28530648
rs28530648
HLA-DRB6
1 1.000 0.120 6 32559302 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2855429
rs2855429
COL11A2
2 0.925 0.120 6 33190412 intron variant A/C snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs2857597
rs2857597
AIF1
3 0.882 0.200 6 31617223 upstream gene variant T/A snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs28605404
rs28605404
HLA-DRB1
1 1.000 0.120 6 32601910 intergenic variant A/G snv 0.10 0.700 1.000 1 2012 2012
dbSNP: rs28895078
rs28895078 		1 1.000 0.120 6 32450114 intergenic variant C/A;G snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895103
rs28895103 		1 1.000 0.120 6 32451687 intergenic variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895171
rs28895171 		1 1.000 0.120 6 32455244 downstream gene variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895187
rs28895187 		1 1.000 0.120 6 32456603 downstream gene variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs2894253
rs2894253
TSBP1-AS1
1 1.000 0.120 6 32377763 intron variant T/G snv 1.0E-01 0.700 1.000 1 2012 2012
dbSNP: rs3020314
rs3020314
ESR1
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2008 2008