| | | | |
RA-AS-
| |
rs11752919
|
ZSCAN23
|
6
|
C
|
in small intron
| |
[3]
|
| | | | |
T1D/ATD-MS
| |
| | | |
Asp527Asn (in CDSN); less than 2.6
|
RA-AS-
| |
rs3130981
|
CDSN/PSORS1C1
|
6
|
A
| | |
[3]
|
| | | |
kb from rs1265048
|
T1D/ATD-MS
| |
| | | |
intergenic; 1.2kb upstream of
|
RA-AS-
| |
rs1265048
| |
6
|
C
| | |
[3]
|
| | | |
PSORS1C1
|
T1D/ATD-MS
| |
| | | | |
RA-AS-
| |
rs151719
|
HLA-DMB
|
6
|
G
|
in small intron
| |
[3]
|
| | | | |
T1D/ATD-MS
| |
| | | | |
ATD-MS/RA-
| |
rs10484565
|
TAP2
|
6
|
T
|
in 3' UTR
| |
[3]
|
| | | | |
AS-T1D
| |
| | | | |
RA-AS-
| |
0rs1264303
|
VARS2
|
6
|
G
|
in 5'UTR
| |
[3]
|
| | | | |
T1D/ATD-MS
| |
| | | | |
RA-AS-
| |
rs2076530
|
BTNL2
|
6
|
G
|
splice site altering/protein truncation
| |
[3]
|
| | | | |
T1D/ATD-MS
| |
| | | |
intergenic; 0.7 kb downstream
|
RA-AS-MS/T1D-
| |
rs3129953
| |
6
|
T
| | |
[3]
|
| | | |
BTNL2
|
ATD
| |
| | | | |
RA-AS-
| |
rs757262
|
TRIM40
|
6
|
T
|
Thr183Met
| |
[3]
|
| | | | |
T1D/ATD-MS
| |
| | | |
intronic; close to alternatively spliced
|
RA-AS-T1D-
| |
rs2517646
|
TRIM10
|
6
|
G
| | |
[3]
|
| | | |
exon
|
ATD/MS
| |
| | | | |
RA-AS-
| |
rs2071286
|
NOTCH4
|
6
|
A
|
intronic
| |
[3]
|
| | | | |
T1D/ATD-MS
| |
| | | | |
CD/T1D-RA-
| |
rs2476601
|
PTPN22
|
1
|
T
|
Arg620TRP
| |
[6, 60–64]
|
| | | | |
SLE-GD
| |
| | | |
about 1kb downstream the
| | |
rs3024505
|
IL10
|
1
|
A
| |
T1D/CD-UC
|
[4]
|
| | | |
transcription end site
| | |
| | | |
about 1kb downstream the
| | |
rs917997
|
IL18RAP
|
2
|
T
| |
T1D/CD
|
[4]
|
| | | |
transcription end site
| | |
rs9388489
| |
6
|
G
|
intergenic
|
CD/T1D
|
[4]
|
rs4788084
| |
16
|
T
|
intergenic
|
T1D/CD
|
[4]
|
| | | | |
T1D-ATD-
| |
rs1063635
|
MICA
|
6
|
A
|
Gln274Arg
| |
[3]
|
| | | | |
MS/AS
| |
rs1634717
| |
6
|
A
|
intergenic
|
RA/T1D-ATD-
|
[3]
|
| | | | |
MS
| |
| | | | |
RA-AS-MS/T1D-
| |
rs204991
|
GPSM3
|
6
|
C
|
intronic
| |
[3]
|
| | | | |
ATD
| |
rs2242655
|
C6orf47
|
6
|
C
|
Lys92Asn
|
ATD-MS/RA-
|
[3]
|
| | | | |
AS-T1D
| |
| | | | |
ATD-MS/RA-
| |
rs2299851
|
MSH5
|
6
|
T
|
Intronic
| |
[3]
|
| | | | |
AS-T1D
| |
| | | | |
AS/RA-T1D-
| |
rs2248462
| |
6
|
A
|
intergenic
| |
[3]
|
| | | | |
ATD-MS
| |
| | | |
intronic; close to alternatively spliced
|
RA-AS-
| |
rs2844463
|
BAT3
|
6
|
T
| | |
[3]
|
| | | |
exon
|
ATD/T1D-MS
| |
| | | | |
RA-AS-MS/T1D-
| |
rs3135363
| |
6
|
C
|
intergenic
| |
[3]
|
| | | | |
ATD
| |
| | | | |
RA-AS-MS/T1D-
| |
rs4428528
| |
6
|
C
|
intergenic
| |
[3]
|
| | | | |
ATD
| |
| | | | |
MS/RA-AS-T1D-
| |
rs887464
| |
6
|
A
|
intergenic (upstream PSORS1C3)
| |
[3]
|
| | | | |
ATD
| |
| | | | |
ATD-MS/RA-
| |
rs9267954
| |
6
|
T
|
intergenic
| |
[3]
|
| | | | |
AS-T1D
| |
rs2201841
|
IL23R
|
1
|
G
|
intronic
|
UC/psoriasis
|
[65, 66]
|
rs744166
|
STAT3
|
17
|
G
|
intronic
|
CD/MS
|
[67, 68]
|