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: rs6449182
rs6449182
CD38
6 0.807 0.160 4 15778830 intron variant C/G snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1443292790
rs1443292790
CD79B
2 1.000 0.120 17 63929438 missense variant T/C snv 0.010 1.000 1 2019 2019
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: rs9831894
rs9831894
CD86
3 0.882 0.120 3 122081640 intron variant A/C snv 0.31 0.010 1.000 1 2020 2020
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: rs1426981647
rs1426981647
CHEK2
2 0.925 0.200 22 28710038 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3025684
rs3025684
CREBBP
2 1.000 0.120 16 3745362 splice region variant G/A snv 7.7E-02 0.15 0.010 1.000 1 2019 2019
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2009 2009
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: rs777500092
rs777500092
DNMT3A
2 1.000 0.120 2 25246231 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs758653954
rs758653954
EFS
2 0.925 0.120 14 23357350 frameshift variant -/C delins 4.0E-06; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs931920092
rs931920092
EFS
2 0.925 0.120 14 23357350 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs20551
rs20551
EP300
10 0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 0.010 1.000 1 2017 2017
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 0.500 2 2013 2018
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: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
dbSNP: rs1178732315
rs1178732315
GBA
3 0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05 0.020 1.000 2 2015 2017
dbSNP: rs1227230819
rs1227230819
GDNF ; GDNF-AS1
2 0.925 0.120 5 37815877 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3957357
rs3957357
GSTA1
7 0.807 0.280 6 52803889 upstream gene variant A/G snv 0.63 0.010 1.000 1 2009 2009
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: rs121913496
rs121913496
HRAS ; LRRC56
16 0.724 0.440 11 533873 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs28933406
rs28933406
HRAS ; LRRC56
27 0.667 0.480 11 533875 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2015 2017
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2017 2017