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rs9376092

From SNPedia

Orientationplus
Stabilizedplus
Make rs9376092(A;A)
Make rs9376092(A;C)
Make rs9376092(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position135106006
is asnp
is mentioned by
dbSNPrs9376092
ebirs9376092
HLIrs9376092
Exacrs9376092
Varsomers9376092
Maprs9376092
PheGenIrs9376092
hapmaprs9376092
1000 genomesrs9376092
hgdprs9376092
ensemblrs9376092
gopubmedrs9376092
geneviewrs9376092
scholarrs9376092
googlers9376092
pharmgkbrs9376092
gwascentralrs9376092
openSNPrs9376092
23andMers9376092
23andMe allrs9376092
SNP Nexus

SNPshotrs9376092
SNPdbers9376092
MSV3drs9376092
GWAS Ctlgrs9376092
GMAF0.2548
Max Magnitude
? (A;A) (A;C) (C;C) 28
GWAS snp
PMID [PMID 19924444]
Trait Beta thalassemia/hemoglobin E disease
Title A genome-wide association identified the common genetic variants influence disease severity in beta(0)-thalassemia/hemoglobin E
Risk Allele
P-val 2E-11
Odds Ratio 2.91 [2.12-3.99]
GWAS snp
PMID [PMID 20183929]
Trait Beta thalassemia/hemoglobin E disease
Title A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
Risk Allele
P-val 2E-11
Odds Ratio 2.9100 [2.12-3.99]


[PMID 17592125OA-icon.png] Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.


[PMID 19148297OA-icon.png] Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.


[PMID 20401335OA-icon.png] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.


GET Evidence
rs9376092
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.289062
summary