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rs35654345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35654345(G;G)
Make rs35654345(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177323
GeneHBA1
is asnp
is mentioned by
dbSNPrs35654345
ebirs35654345
HLIrs35654345
Exacrs35654345
Varsomers35654345
Maprs35654345
PheGenIrs35654345
hapmaprs35654345
1000 genomesrs35654345
hgdprs35654345
ensemblrs35654345
gopubmedrs35654345
geneviewrs35654345
scholarrs35654345
googlers35654345
pharmgkbrs35654345
gwascentralrs35654345
openSNPrs35654345
23andMers35654345
23andMe allrs35654345
SNP Nexus

SNPshotrs35654345
SNPdbers35654345
MSV3drs35654345
GWAS Ctlgrs35654345
Merged fromRs63751116
Max Magnitude0
OMIM141800
Desc
Variant0153
Relatedalso
OMIM141850
Desc
Variant0051
Relatedalso
ClinVar
Risk rs35654345(A;A)
Alt rs35654345(A;A)
Reference rs35654345(T;T)
Significance Other
Disease HEMOGLOBIN TWIN PEAKS
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN TWIN PEAKS
Reversed 0
HGVS NC_000016.9:g.227322T>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017173.2,


[PMID 3839772] Hemoglobin Twin Peaks alpha 113 (GH1) Leu----His.


[PMID 11259442] A role for the alpha 113 (GH1) amino acid residue in the polymerization of sickle hemoglobin. Evaluation of its inhibitory strength and interaction linkage with two fiber contact sites (alpha 16/23) located in the AB region of the alpha-chain.