|
rs2476601
|
|
|
1.000 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs2004640
|
|
T |
0.790 |
CausalMutation |
CLINVAR |
|
|
|
|
rs3087456
|
|
G |
0.780 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs2240340
|
|
C |
0.770 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057523354
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1557787212
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1566328963
|
|
A |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs3766379
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs231775
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We have studied the distribution of the CTLA4 exon 1 polymorphism (49 A/G) in rheumatoid arthritis.
|
9459504 |
1998 |
|
rs17879469
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have studied the distribution of the CTLA4 exon 1 polymorphism (49 A/G) in rheumatoid arthritis.
|
9459504 |
1998 |
|
rs63750306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To learn about the significance of PS1 in the differentiation of neuronal cells, we established NTera 2 (NT2) cell lines stably expressing wild-type (wt) or M146V mutant human PS1, and compared the differentiation of both types of cell lines into postmitotic neurons upon retinoic acid (RA) treatment.
|
9535737 |
1998 |
|
rs231775
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Cytotoxic T-lymphocyte antigen 4 (CTLA4) polymorphisms located in the promotor region at positions -318 (C/T) and in exon 1 (49 A/ G) were investigated in 138 Spanish patients (37 men and 101 women) with rheumatoid arthritis and in 305 ethnically-matched healthy controls.
|
10203024 |
1999 |
|
rs17879469
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Cytotoxic T-lymphocyte antigen 4 (CTLA4) polymorphisms located in the promotor region at positions -318 (C/T) and in exon 1 (49 A/ G) were investigated in 138 Spanish patients (37 men and 101 women) with rheumatoid arthritis and in 305 ethnically-matched healthy controls.
|
10203024 |
1999 |
|
rs397516436
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Low levels of bax promoter activity were detected in HS68 cells co-transfected with bax-luc and empty vector, N239S, or R213*, indicating that the RA mutants lacked transcriptional activity.
|
10366100 |
1999 |
|
rs17235409
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Three NRAMP1 polymorphisms (823C/T, D543N and 1729+55del4) were significantly associated with RA.
|
10719815 |
2000 |
|
rs121912656
|
|
|
0.010 |
GeneticVariation |
BEFREE |
G245D mutation might especially need further study as it is the first recurrently identified p53 mutation in RA and is also one of the frequently identified mutations in human cancers.
|
10788533 |
2000 |
|
rs1799945
|
|
|
0.020 |
GeneticVariation |
BEFREE |
H63D mutation appears to play a role in pathogenesis of RA.
|
10990216 |
2000 |
|
rs1800562
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The prevalence of C282Y mutation in patients with RA was the same as in healthy controls.
|
10990216 |
2000 |
|
rs1799969
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our preliminary findings show that G/R 241 polymorphism of ICAM-1 is associated with RA, and that this confers a reduced risk of extra-articular manifestations and is associated with a slow rate of joint destruction.
|
11072593 |
2001 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The C677T mutation is the first identified genetic risk factor for elevated alanine aminotransferase values during MTX treatment in patients with RA.
|
11710708 |
2001 |
|
rs1800450
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Point mutations in the collagen-like domain (R32C, G34D, or G37E) of MBL cause a serum deficiency, predisposing patients to infections and diseases such as rheumatoid arthritis.
|
11891230 |
2002 |
|
rs139620474
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Point mutations in the collagen-like domain (R32C, G34D, or G37E) of MBL cause a serum deficiency, predisposing patients to infections and diseases such as rheumatoid arthritis.
|
11891230 |
2002 |
|
rs1800451
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Point mutations in the collagen-like domain (R32C, G34D, or G37E) of MBL cause a serum deficiency, predisposing patients to infections and diseases such as rheumatoid arthritis.
|
11891230 |
2002 |
|
rs761026187
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Point mutations in the collagen-like domain (R32C, G34D, or G37E) of MBL cause a serum deficiency, predisposing patients to infections and diseases such as rheumatoid arthritis.
|
11891230 |
2002 |
|
rs781530030
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Point mutations in the collagen-like domain (R32C, G34D, or G37E) of MBL cause a serum deficiency, predisposing patients to infections and diseases such as rheumatoid arthritis.
|
11891230 |
2002 |