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: rs6059655
rs6059655
RALY
10 0.790 0.080 20 34077942 intron variant A/G snv 0.95 0.700 1.000 1 2016 2016
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: rs638893
rs638893 		4 0.882 0.080 11 118827828 intergenic variant G/A snv 0.79 0.820 1.000 2 2013 2017
dbSNP: rs1635168
rs1635168
HERC2
3 1.000 0.040 15 28290120 intron variant A/C snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2017 2017
dbSNP: rs8192917
rs8192917
GZMB ; LOC107984667
3 0.925 0.040 14 24632954 missense variant C/T snv 0.76 0.72 0.810 1.000 4 2010 2018
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2013 2013
dbSNP: rs7188793
rs7188793
CBFA2T3
1 1.000 0.040 16 88976453 intron variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs158676
rs158676
CDK5RAP1
2 0.925 0.040 20 33386589 intron variant G/A snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs4908760
rs4908760
RERE
1 1.000 0.040 1 8466082 intron variant G/A snv 0.68 0.800 1.000 2 2010 2012
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: rs4807000
rs4807000
TICAM1
2 1.000 0.040 19 4831866 upstream gene variant A/G 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: rs6510827
rs6510827
TICAM1
1 1.000 0.040 19 4830616 intron variant T/C snv 0.66 0.800 1.000 1 2012 2012
dbSNP: rs35161626
rs35161626
UBE2E2
1 1.000 0.040 3 23470822 intron variant A/- del 0.64 0.700 1.000 1 2016 2016
dbSNP: rs291700
rs291700
CDK5RAP1
3 0.925 0.040 20 33394043 synonymous variant T/C snv 0.64 0.62 0.010 1.000 1 2013 2013
dbSNP: rs13136820
rs13136820
LINC02265
1 1.000 0.040 4 40305547 intergenic variant C/T snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs7090530
rs7090530 		4 0.851 0.160 10 6068912 downstream gene variant C/A snv 0.59 0.010 1.000 1 2015 2015
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: rs9926296
rs9926296
FANCA
1 1.000 0.040 16 89751681 intron variant A/G snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs734930
rs734930
AUTS2
3 0.925 0.040 7 70555174 intron variant T/C snv 0.53 0.010 1.000 1 2010 2010
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: rs6012953
rs6012953 		1 1.000 0.040 20 50506506 upstream gene variant A/G snv 0.52 0.700 1.000 1 2016 2016
dbSNP: rs2236313
rs2236313
RNASET2
1 1.000 0.040 6 166946901 intron variant T/C snv 0.53 0.50 0.800 1.000 1 2010 2010