Have questions? Visit https://www.reddit.com/r/SNPedia

rs2071348

From SNPedia

Orientationminus
Stabilizedminus
Make rs2071348(A;A)
Make rs2071348(A;C)
Make rs2071348(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5242916
GeneHBBP1
is asnp
is mentioned by
dbSNPrs2071348
ebirs2071348
HLIrs2071348
Exacrs2071348
Varsomers2071348
Maprs2071348
PheGenIrs2071348
hapmaprs2071348
1000 genomesrs2071348
hgdprs2071348
ensemblrs2071348
gopubmedrs2071348
geneviewrs2071348
scholarrs2071348
googlers2071348
pharmgkbrs2071348
gwascentralrs2071348
openSNPrs2071348
23andMers2071348
23andMe allrs2071348
SNP Nexus

SNPshotrs2071348
SNPdbers2071348
MSV3drs2071348
GWAS Ctlgrs2071348
GMAF0.202
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 3E-15
Odds Ratio 4.05 [2.64-6.21]
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 3E-15
Odds Ratio 4.0500 [2.64-6.21]


[PMID 17688704OA-icon.png] Classical sickle beta-globin haplotypes exhibit a high degree of long-range haplotype similarity in African and Afro-Caribbean populations.


[PMID 20353593OA-icon.png] Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study.


GET Evidence
rs2071348
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.203125
summary



[PMID 22943111] A single nucleotide polymorphism in the HBBP1 gene in the human beta-globin locus is associated with a mild beta-thalassemia disease phenotype.