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rs34210688

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGCACTGTGACAAG;CTGCACTGTGACAAG) 0
(TGCACTGTGACAAGC;TGCACTGTGACAAGC) 0 common in clinvar
Make rs34210688(-;-)
Make rs34210688(-;CTGCACTGTGACAAG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226604
GeneHBB
is asnp
is mentioned by
dbSNPrs34210688
ebirs34210688
HLIrs34210688
Exacrs34210688
Varsomers34210688
Maprs34210688
PheGenIrs34210688
hapmaprs34210688
1000 genomesrs34210688
hgdprs34210688
ensemblrs34210688
gopubmedrs34210688
geneviewrs34210688
scholarrs34210688
googlers34210688
pharmgkbrs34210688
gwascentralrs34210688
openSNPrs34210688
23andMers34210688
23andMe allrs34210688
SNP Nexus

SNPshotrs34210688
SNPdbers34210688
MSV3drs34210688
GWAS Ctlgrs34210688
Max Magnitude0
OMIM141900
Desc
Variant0095
Relatedalso


ClinVar
Risk rs34210688(;)
Alt rs34210688(;)
Reference rs34210688(TGTGACAAGCTGCAC;TGTGACAAGCTGCAC)
Significance Other
Disease HEMOGLOBIN GUN HILL
Variation info
Gene HBB
CLNDBN HEMOGLOBIN GUN HILL
Reversed 1
HGVS NC_000011.9:g.5247834_5247848delCTTGTCACAGTGCAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000016365.2,



[PMID 19375] Some properties of hemoglobin Gun Hill.


[PMID 5540175OA-icon.png] Synthesis of hemoglobin Gun Hill: increased synthesis of the heme-free beta-GH globin chain and subunit exchange with a free alpha-chain pool.


[PMID 5675976] Hemoglobin Gun Hill: an unstable protein associated with chronic hemolysis.


[PMID 6038175] Hemoglobin Gun Hill: deletion of five amino acid residues and impaired heme-globin binding.