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rs7482144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs7482144(A;A)
Make rs7482144(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254939
GeneHBG2, LOC100288908
is asnp
is mentioned by
dbSNPrs7482144
ebirs7482144
HLIrs7482144
Exacrs7482144
Varsomers7482144
Maprs7482144
PheGenIrs7482144
hapmaprs7482144
1000 genomesrs7482144
hgdprs7482144
ensemblrs7482144
gopubmedrs7482144
geneviewrs7482144
scholarrs7482144
googlers7482144
pharmgkbrs7482144
gwascentralrs7482144
openSNPrs7482144
23andMers7482144
23andMe allrs7482144
SNP Nexus

SNPshotrs7482144
SNPdbers7482144
MSV3drs7482144
GWAS Ctlgrs7482144
GMAF0.1685
Max Magnitude0
OMIM603903
DescSICKLE CELL ANEMIA
Variant
Relatedalso
OMIM141749
DescFETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
Variant
Relatedalso
OMIM142250
DescHEMOGLOBIN, GAMMA G; HBG2
Variant
Relatedalso


[PMID 20472475] The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients

OMIM142250
Desc
Variant0028
Relatedalso
[PMID 18194558OA-icon.png] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

[PMID 18667698OA-icon.png] DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.

[PMID 18695233OA-icon.png] Genetic complexity in sickle cell disease.

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

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


[PMID 25651163] Genetics of fetal hemoglobin in tribal Indian patients with sickle cell anemia


ClinVar
Risk rs7482144(A,C,T;A,C,T)
Alt rs7482144(A,C,T;A,C,T)
Reference rs7482144(G;G)
Significance Unknown
Disease Fetal hemoglobin quantitative trait locus 1
Variation info
Gene HBG2
CLNDBN Fetal hemoglobin quantitative trait locus 1
Reversed 0
HGVS NC_000011.9:g.5276169G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016124.2,