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: rs116446171
rs116446171 		4 0.851 0.160 6 484453 downstream gene variant C/G snv 2.3E-02 0.710 1.000 2 2014 2015
dbSNP: rs1323292
rs1323292
LOC105371664
3 0.882 0.160 1 192571891 intron variant G/A snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs13255292
rs13255292
PVT1
2 0.925 0.120 8 128064327 intron variant C/T snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1444766
rs1444766
KALRN
3 0.882 0.160 3 124206424 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs16978630
rs16978630
TNPO2
2 0.925 0.160 19 12702869 missense variant T/C;G snv 4.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs2425752
rs2425752
NCOA5
4 0.851 0.160 20 46073481 intron variant T/C snv 0.79 0.700 1.000 1 2019 2019
dbSNP: rs2523607
rs2523607
HLA-B ; MIR6891
1 1.000 0.120 6 31355013 non coding transcript exon variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs2681416
rs2681416
CD86
2 0.925 0.120 3 122098766 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs3890745
rs3890745
MMEL1
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs4733601
rs4733601 		1 1.000 0.120 8 128257220 TF binding site variant A/G snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs751837
rs751837
CDC42BPB
4 0.882 0.120 14 103018488 intron variant T/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs7712513
rs7712513
LOC101927357
2 0.925 0.120 5 122582513 intergenic variant G/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs7765004
rs7765004 		2 0.925 0.120 6 113750518 regulatory region variant A/C snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs79464052
rs79464052
ARAP3
1 1.000 0.120 5 141655607 intron variant G/C snv 7.1E-02 7.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs79480871
rs79480871 		2 0.925 0.160 2 24471603 intergenic variant C/T snv 9.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs806321
rs806321
DLEU1
4 0.851 0.160 13 50267187 intron variant C/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs111724149
rs111724149
PRDM11
2 0.925 0.120 11 45204720 missense variant A/G snv 1.8E-03 1.8E-03 0.700 0
dbSNP: rs35090414
rs35090414
PRDM11
2 0.925 0.120 11 45224227 missense variant G/A;T snv 1.5E-04; 8.2E-02 0.700 0
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.100 0.895 19 2013 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2013 2016
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 1.000 4 2013 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 2013 2018
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.030 1.000 3 2007 2016
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.030 1.000 3 2010 2015