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rs1678542

From SNPedia

Orientationminus
Stabilizedminus
Make rs1678542(C;C)
Make rs1678542(C;G)
Make rs1678542(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57574932
GeneKIF5A
is asnp
is mentioned by
dbSNPrs1678542
ebirs1678542
HLIrs1678542
Exacrs1678542
Varsomers1678542
Maprs1678542
PheGenIrs1678542
hapmaprs1678542
1000 genomesrs1678542
hgdprs1678542
ensemblrs1678542
gopubmedrs1678542
geneviewrs1678542
scholarrs1678542
googlers1678542
pharmgkbrs1678542
gwascentralrs1678542
openSNPrs1678542
23andMers1678542
23andMe allrs1678542
SNP Nexus

SNPshotrs1678542
SNPdbers1678542
MSV3drs1678542
GWAS Ctlgrs1678542
GMAF0.4793
Max Magnitude
? (C;C) (C;G) (G;G) 28
GWAS
SNP rs1678542
PubMedID [PMID 18794853OA-icon.png]
Condition Rheumatoid arthritis
Gene KIF5A-PIP4K2C
Risk Allele C
pValue 9.00E-008
OR 1.12
95% CI


OMIM180300
DescRHEUMATOID ARTHRITIS; RA
Variant
Relatedalso
[PMID 19956108OA-icon.png] Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1


[PMID 20508602] The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis

[PMID 20498205OA-icon.png] Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers



[PMID 19674979OA-icon.png] Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.


[PMID 20439292] Genetic variants in the prediction of rheumatoid arthritis.


[PMID 20444755OA-icon.png] Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.


GET Evidence
rs1678542
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.460938
summary



[PMID 23378462] Replication of European Rheumatoid Arthritis Loci in a Pakistani Population


[PMID 22328738OA-icon.png] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.

GWAS snp
PMID [PMID 24449572OA-icon.png]
Trait Rheumatoid arthritis
Title Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
Risk Allele
P-val 1E-7
Odds Ratio 1.20 [1.12-1.28]


[PMID 26092158] IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups