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rs1061235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0.1 Normal carbamazepine sensitivity; common in clinvar
(A;T) 2.9 26% risk of bad reaction to anti-epileptic carbamazepine
(T;T) 4 26% risk of bad reaction to anti-epileptic carbamazepine
ReferenceGRCh38 38.1/141
Chromosome6
Position29945521
GeneHLA-A
is asnp
is mentioned by
dbSNPrs1061235
ebirs1061235
HLIrs1061235
Exacrs1061235
Varsomers1061235
Maprs1061235
PheGenIrs1061235
hapmaprs1061235
1000 genomesrs1061235
hgdprs1061235
ensemblrs1061235
gopubmedrs1061235
geneviewrs1061235
scholarrs1061235
googlers1061235
pharmgkbrs1061235
gwascentralrs1061235
openSNPrs1061235
23andMers1061235
23andMe allrs1061235
SNP Nexus

SNPshotrs1061235
SNPdbers1061235
MSV3drs1061235
GWAS Ctlgrs1061235
GMAF0.07208
Max Magnitude4
GWAS snp
PMID [PMID 21428769OA-icon.png]
Trait
Title HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans
Risk Allele
P-val 1E-7
Odds Ratio 9.1200 [4.03-20.65]

rs1061235(T) serves as a proxy for the HLA-A*3101 allele.[PMID 16998491OA-icon.png]

The HLA-A*3101 allele, found in about 2 - 5% of Northern Europeans, is significantly associated with carbamazepine hypersensitivity syndrome, with odds ratios above 10. The presence of this HLA allele increases the risk from 5% to 26%, whereas its absence reduces the risk from 5% to 4%.[PMID 21428769OA-icon.png]


ClinVar
Risk rs1061235(T;T)
Alt rs1061235(T;T)
Reference rs1061235(A;A)
Significance Other
Disease Carbamazepine hypersensitivity
Variation info
Gene HLA-A
CLNDBN Carbamazepine hypersensitivity
Reversed 0
HGVS NC_000006.11:g.29913298A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022618.3,



[PMID 26083016] Accuracy of SNPs to predict risk of HLA alleles associated with drug-induced hypersensitivity events across racial groups