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rs33921047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33921047(A;G)
Make rs33921047(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177057
GeneHBA1
is asnp
is mentioned by
dbSNPrs33921047
ebirs33921047
HLIrs33921047
Exacrs33921047
Varsomers33921047
Maprs33921047
PheGenIrs33921047
hapmaprs33921047
1000 genomesrs33921047
hgdprs33921047
ensemblrs33921047
gopubmedrs33921047
geneviewrs33921047
scholarrs33921047
googlers33921047
pharmgkbrs33921047
gwascentralrs33921047
openSNPrs33921047
23andMers33921047
23andMe allrs33921047
SNP Nexus

SNPshotrs33921047
SNPdbers33921047
MSV3drs33921047
GWAS Ctlgrs33921047
Max Magnitude0
OMIM141800
Desc
Variant0017
Relatedalso
OMIM141800
Desc
Variant0089
Relatedalso
ClinVar
Risk rs33921047(C,G,T;C,G,T)
Alt rs33921047(C,G,T;C,G,T)
Reference rs33921047(A;A)
Significance Other
Disease HEMOGLOBIN LILLE HEMOGLOBIN CHAPEL HILL
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN LILLE HEMOGLOBIN CHAPEL HILL
Reversed 0
HGVS NC_000016.9:g.227056A>C; NC_000016.9:g.227056A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017095.2, RCV000017004.2,


[PMID 7275663] Hemoglobin Lille, alpha 2 [74(EF3) Asp replaced by Ala] beta 2.


[PMID 8332] Hemoglobin Chapel Hill or alpha2 74 Asp replaced by Gly beta2.


[PMID 3754243] Hb Chapel Hill or alpha 274(EF3)Asp----Gly beta 2 observed in a Chinese family in association with beta-thalassemia.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.