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rs9270305

From SNPedia

Merged intors707953
Orientationminus
Stabilizedplus
Make rs9270305(C;C)
Make rs9270305(C;T)
Make rs9270305(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position32589729
GeneHLA-DRB1
is asnp
is mentioned by
dbSNPrs9270305
ebirs9270305
HLIrs9270305
Exacrs9270305
Varsomers9270305
Maprs9270305
PheGenIrs9270305
hapmaprs9270305
1000 genomesrs9270305
hgdprs9270305
ensemblrs9270305
gopubmedrs9270305
geneviewrs9270305
scholarrs9270305
googlers9270305
pharmgkbrs9270305
gwascentralrs9270305
openSNPrs9270305
23andMers9270305
23andMe allrs9270305
SNP Nexus

SNPshotrs9270305
SNPdbers9270305
MSV3drs9270305
GWAS Ctlgrs9270305
StatusMerged into rs707953
Max Magnitude
Venter snp
Source plos
Gene HLA-DRB4
allele C
frequency
sift TOLERATED
HuRef 1103652831626
Disease Association Allelic variation at the HLA-DRB1 locus is a major contributor to genetic predisposition for sarcoidosis (MIM:181000). Sarcoidosis is a disease of unknown aetiology in which there are chronic inflammatory granulomatous lesions in lymph nodes and other organs.



GET Evidence
HLA-DRB1-K5R
aa_change Lys5Arg
aa_change_short K5R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary