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: rs1010023
rs1010023
PNPLA3
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs12354
rs12354
LTBR
2 0.925 0.080 12 6390939 3 prime UTR variant T/A;G snv 1.6E-04; 0.76 0.010 1.000 1 2017 2017
dbSNP: rs2617160
rs2617160
KLRC4-KLRK1 ; LOC101928100
1 1.000 0.080 12 10392998 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2853953
rs2853953 		1 1.000 0.080 6 31267728 downstream gene variant G/A snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs3806798
rs3806798
IL15
2 0.925 0.080 4 141636126 upstream gene variant T/A snv 8.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs4845384
rs4845384
ADAR
1 1.000 0.080 1 154615193 intron variant A/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs4935047
rs4935047
MBL2
1 1.000 0.080 10 52770307 intron variant A/G snv 0.49 0.010 < 0.001 1 2013 2013
dbSNP: rs61886277
rs61886277
PLCE1
1 1.000 0.080 10 94012060 intergenic variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs7549785
rs7549785
FCER1A
3 0.925 0.080 1 159308078 3 prime UTR variant G/A snv 0.13 0.710 1.000 1 2019 2019
dbSNP: rs76844316
rs76844316
BTLA
1 1.000 0.080 3 112469762 missense variant T/G snv 2.4E-02 2.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs7712322
rs7712322
POLR3G
1 1.000 0.080 5 90482078 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs78900671
rs78900671
COL22A1
1 1.000 0.080 8 138653967 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs9287655
rs9287655
NBAS
1 1.000 0.080 2 15245360 intron variant C/T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs9366816
rs9366816
HLA-DPA3 ; LOC105375021
2 0.925 0.080 6 33136398 intron variant T/C snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs11465817
rs11465817
IL23R
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2132039
rs2132039
UGT2B28
2 0.925 0.120 4 69293669 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs3759333
rs3759333
LTBR
3 0.882 0.120 12 6382781 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7095891
rs7095891
MBL2
3 0.882 0.120 10 52771701 upstream gene variant G/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs1054690270
rs1054690270
GPT ; LOC101928953
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs117648444
rs117648444
IFNL4
3 0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs12614
rs12614
CFB ; CYP21A2
5 0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 0.700 1.000 1 2015 2015
dbSNP: rs148314165
rs148314165 		3 0.925 0.160 6 137908902 intergenic variant T/- delins 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs200820567
rs200820567 		4 0.882 0.160 6 137908903 intergenic variant T/A snv 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs3106796
rs3106796
COL3A1 ; LOC105373791
3 0.882 0.160 2 188985047 non coding transcript exon variant A/G snv 0.35 0.010 1.000 1 2008 2008
dbSNP: rs3130542
rs3130542 		8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.700 1.000 1 2015 2015