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: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs1557055311
rs1557055311
ABCD1
5 0.882 0.200 X 153743220 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1010930015
rs1010930015
TBK1
2 1.000 0.040 12 64460250 missense variant A/C snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1555202947
rs1555202947
TBK1
2 1.000 0.040 12 64467018 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1799821
rs1799821
CPT2
8 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2014 2014
dbSNP: rs1799822
rs1799822
CPT2
4 0.925 0.080 1 53213557 missense variant A/G snv 0.16 0.15 0.010 1.000 1 2019 2019
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2017 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
dbSNP: rs1889570
rs1889570
IL17F
3 0.882 0.160 6 52245936 upstream gene variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2227283
rs2227283
GRIK2
3 0.882 0.080 6 102055442 missense variant G/A;C;T snv 0.40; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs2227288
rs2227288
CD320
2 1.000 0.040 19 8302641 intron variant G/C;T snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2229291
rs2229291
CPT2
8 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs2858870
rs2858870
HLA-DRB1
4 0.851 0.280 6 32604474 intergenic variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs35311343
rs35311343
TLR3
1 1.000 0.040 4 186082575 missense variant C/G snv 1.5E-03 1.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs739901
rs739901
OAS2
1 1.000 0.040 12 112977858 intron variant C/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs753482575
rs753482575
TLR3
1 1.000 0.040 4 186078995 missense variant A/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2013 2013