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: rs10411936
rs10411936
EPS15L1
3 1.000 0.080 19 16437564 intron variant A/G snv 0.63 0.700 1.000 1 2011 2011
dbSNP: rs12504282
rs12504282
ANTXR2
2 1.000 0.040 4 80005847 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17229044
rs17229044
CLEC16A
2 1.000 0.120 16 10969079 intron variant C/T snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs2305806
rs2305806
SH2D3A
2 1.000 0.120 19 6754996 synonymous variant T/C snv 0.30 0.35 0.700 1.000 1 2012 2012
dbSNP: rs417162
rs417162
HLA-A
2 1.000 0.120 6 29948728 downstream gene variant C/T snv 0.66 0.700 1.000 1 2012 2012
dbSNP: rs422112
rs422112
LINC02210 ; LINC02210-CRHR1
3 1.000 0.080 17 45650771 non coding transcript exon variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs4982912
rs4982912
KHNYN
2 1.000 0.040 14 24434078 intron variant A/G snv 0.65 0.700 1.000 1 2012 2012
dbSNP: rs5757611
rs5757611 		2 1.000 0.080 22 39312352 downstream gene variant C/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs6531656
rs6531656
KLF3
2 1.000 0.040 4 38682580 intron variant C/T snv 0.87 0.700 1.000 1 2016 2016
dbSNP: rs6569648
rs6569648
L3MBTL3
7 1.000 0.080 6 130027974 intron variant C/T snv 0.84 0.700 1.000 1 2016 2016
dbSNP: rs6807974
rs6807974
USP13
2 1.000 0.040 3 179682158 intron variant A/G snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs7650602
rs7650602
ZBTB38
2 1.000 0.040 3 141428572 intron variant T/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs990171
rs990171 		2 1.000 0.080 2 102470310 upstream gene variant A/C snv 0.78 0.700 1.000 1 2016 2016
dbSNP: rs13182402
rs13182402
ALDH7A1
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs2249742
rs2249742
HLA-B ; HLA-C
7 0.925 0.120 6 31272944 intron variant C/T snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs2524089
rs2524089
HLA-B ; LINC02571 ; LOC112267902
3 0.925 0.160 6 31298745 intron variant G/T snv 0.65 0.700 1.000 1 2012 2012
dbSNP: rs2847153
rs2847153
TYMS
3 0.925 0.080 18 661647 intron variant G/A snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs3128930
rs3128930 		3 0.925 0.120 6 33107889 upstream gene variant C/T snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs3129932
rs3129932
TSBP1 ; TSBP1-AS1
3 0.925 0.160 6 32368350 intron variant G/C snv 0.76 0.700 1.000 1 2012 2012
dbSNP: rs9272219
rs9272219
HLA-DQA1
4 0.925 0.160 6 32634492 intron variant G/T snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs112401631
rs112401631 		8 0.882 0.120 17 40608272 TF binding site variant T/A snv 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs5754100
rs5754100
UBE2L3
5 0.882 22 21561877 intron variant T/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs9268858
rs9268858
HLA-DRB9
5 0.882 0.200 6 32461981 intron variant T/C snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs3825932
rs3825932
CTSH
6 0.827 0.360 15 78943104 intron variant T/C snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs11168249
rs11168249
HDAC7
9 0.807 0.120 12 47814585 intron variant T/C snv 0.50 0.700 1.000 1 2016 2016