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: rs4699030
rs4699030
NFKB1
1 1.000 0.040 4 102582667 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs9480610
rs9480610
LOC105377923
1 1.000 0.040 6 105873969 intron variant G/A snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs10817678
rs10817678 		1 1.000 0.040 9 114817177 intergenic variant G/A snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs61955029
rs61955029
MIR9902-2
1 1.000 0.040 12 122711253 intron variant T/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs4466418
rs4466418
NSMCE2
1 1.000 0.040 8 125311545 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3757387
rs3757387
IRF5
6 0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs7749390
rs7749390
IFNGR1
3 0.882 0.120 6 137219233 5 prime UTR variant A/G;T snv 0.43; 4.4E-06 0.700 1.000 1 2019 2019
dbSNP: rs11757201
rs11757201 		5 0.851 0.040 6 137682685 intron variant G/C;T snv 0.700 1.000 1 2019 2019
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: 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: rs11204668
rs11204668
ADAMTSL4-AS1
1 1.000 0.040 1 150571210 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs62491812
rs62491812
GIMAP6
2 1.000 0.040 7 150630336 intron variant C/A snv 0.18 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: rs73156502
rs73156502
RARRES1
1 1.000 0.040 3 158719214 intron variant C/T snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs4921484
rs4921484
LOC285626
2 1.000 0.040 5 159342745 intron variant T/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs6441263
rs6441263
SCHIP1 ; IQCJ-SCHIP1
1 1.000 0.040 3 159462273 intron variant A/G snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs145743887
rs145743887
SCHIP1 ; IQCJ-SCHIP1
1 1.000 0.040 3 159464380 intron variant A/T snv 9.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs150921465
rs150921465
SCHIP1 ; IQCJ-SCHIP1
1 1.000 0.040 3 159518731 intron variant G/A;T snv 9.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs116295688
rs116295688
SCHIP1 ; IQCJ-SCHIP1
1 1.000 0.040 3 159545173 intron variant G/T snv 2.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs11710258
rs11710258
SCHIP1 ; IQCJ-SCHIP1
1 1.000 0.040 3 159551353 intron variant A/G snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs9831658
rs9831658
SCHIP1 ; IQCJ-SCHIP1
1 1.000 0.040 3 159757722 intron variant A/T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs7617394
rs7617394
SCHIP1 ; IQCJ-SCHIP1
1 1.000 0.040 3 159760965 intron variant C/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs11928736
rs11928736
SCHIP1 ; IQCJ-SCHIP1 ; LOC101928351
1 1.000 0.040 3 159847620 intron variant G/C snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs1353248
rs1353248
IL12A-AS1
2 0.925 0.120 3 159905770 intron variant C/T snv 0.32 0.700 1.000 1 2019 2019