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rs33947457

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33947457(A;A)
Make rs33947457(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226990
GeneHBB
is asnp
is mentioned by
dbSNPrs33947457
ebirs33947457
HLIrs33947457
Exacrs33947457
Varsomers33947457
Maprs33947457
PheGenIrs33947457
hapmaprs33947457
1000 genomesrs33947457
hgdprs33947457
ensemblrs33947457
gopubmedrs33947457
geneviewrs33947457
scholarrs33947457
googlers33947457
pharmgkbrs33947457
gwascentralrs33947457
openSNPrs33947457
23andMers33947457
23andMe allrs33947457
SNP Nexus

SNPshotrs33947457
SNPdbers33947457
MSV3drs33947457
GWAS Ctlgrs33947457
Max Magnitude0
OMIM141900
Desc
Variant0009
Relatedalso
OMIM141900
Desc
Variant0483
Relatedalso
ClinVar
Risk rs33947457(A,T;A,T)
Alt rs33947457(A,T;A,T)
Reference rs33947457(C;C)
Significance Other
Disease HEMOGLOBIN IRAQ-HALABJA HEMOGLOBIN ANKARA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN IRAQ-HALABJA HEMOGLOBIN ANKARA
Reversed 1
HGVS NC_000011.9:g.5248220G>A; NC_000011.9:g.5248220G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016838.2, RCV000016250.2,


[PMID 3957691] The survey of abnormal hemoglobins in the Kobe district: Hb G-Coushatta [beta 22(B4)Glu----Ala], Hb Ankara (beta 10(A7)Ala----Asp], Hb Handa [alpha 90(FG2)Lys----Met], and Hb J-Habana [alpha 71(E20)Ala----Glu].


[PMID 4850241] A new haemoglobin J from Turkey--Hb Ankara (beta10 (A7) Ala-Asp).


[PMID 10398311] Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb disorders.