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: rs1545536
rs1545536
GSDMD
1 1.000 0.040 8 143560999 splice region variant C/A;G;T snv 4.0E-06; 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1639150
rs1639150
TRAP1
3 0.925 0.120 16 3697203 intron variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs16823566
rs16823566
GTDC1
1 1.000 0.040 2 144192681 intron variant G/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs17015865
rs17015865
IL19
1 1.000 0.040 1 206785242 intron variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs17552787
rs17552787 		1 1.000 0.040 7 50264486 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17712835
rs17712835
LOC107986082
1 1.000 0.040 3 45804430 intergenic variant T/C snv 2.4E-02 0.700 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 0.700 1.000 1 2019 2019
dbSNP: rs1800973
rs1800973
LYZ
9 0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs1871665
rs1871665
TAP2
1 1.000 0.040 6 32837102 intron variant C/T snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs2021408
rs2021408
HLA-DPA1 ; HLA-DPB1
1 1.000 0.040 6 33078949 intron variant T/C snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs2071536
rs2071536
PSMB9 ; TAP1
1 1.000 0.040 6 32853670 synonymous variant C/T snv 9.9E-02 8.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs2072379
rs2072379
TRAP1
3 0.925 0.120 16 3688886 intron variant C/T snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs2074478
rs2074478
PSORS1C1 ; PSORS1C2
1 1.000 0.040 6 31137856 3 prime UTR variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2232359
rs2232359
IL20
1 1.000 0.040 1 206867269 intron variant A/G snv 5.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs2305742
rs2305742
IL12RB1
1 1.000 0.040 19 18080631 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2429657
rs2429657 		1 1.000 0.040 6 30503743 intergenic variant A/G snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs2516392
rs2516392
LTA ; LOC100287329
1 1.000 0.040 6 31561557 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2517664
rs2517664
TRIM31 ; TRIM31-AS1
2 1.000 0.040 6 30105482 non coding transcript exon variant C/T snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs2523589
rs2523589 		4 0.851 0.200 6 31359557 upstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2759663
rs2759663
CRB1
2 0.925 0.080 1 197415296 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2902941
rs2902941
LOC105372618
1 1.000 0.040 20 40462874 regulatory region variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs2914119
rs2914119
LINC01100 ; IL12A-AS1
1 1.000 0.040 3 160026651 non coding transcript exon variant C/G;T snv 0.73 0.700 1.000 1 2019 2019
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs3135461
rs3135461 		1 1.000 0.040 6 32712345 regulatory region variant G/A;C snv 0.700 1.000 1 2019 2019