Table 1

SNPs with opposite risk profiles in different autoimmune diseases

SNP

Gene

Chra

A1b

Annotation

Diseasesc

Ref


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]


a chromosome

b minor allele in CEU

c diseases are shown in order depending on the predisposing/protective effect of the minor allele.

Cagliani et al. BMC Evolutionary Biology 2011 11:171   doi:10.1186/1471-2148-11-171

Open Data