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rs34011123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34011123(C;C)
Make rs34011123(C;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position177397
GeneHBA1
is asnp
is mentioned by
dbSNPrs34011123
ebirs34011123
HLIrs34011123
Exacrs34011123
Varsomers34011123
Maprs34011123
PheGenIrs34011123
hapmaprs34011123
1000 genomesrs34011123
hgdprs34011123
ensemblrs34011123
gopubmedrs34011123
geneviewrs34011123
scholarrs34011123
googlers34011123
pharmgkbrs34011123
gwascentralrs34011123
openSNPrs34011123
23andMers34011123
23andMe allrs34011123
SNP Nexus

SNPshotrs34011123
SNPdbers34011123
MSV3drs34011123
GWAS Ctlgrs34011123
Max Magnitude0
OMIM141800
Desc
Variant0007
Relatedalso


ClinVar
Risk rs34011123(C;C)
Alt rs34011123(C;C)
Reference rs34011123(T;T)
Significance Other
Disease HEMOGLOBIN ATTLEBORO
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN ATTLEBORO
Reversed 0
HGVS NC_000016.9:g.227396T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016993.2,



[PMID 2108715] Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue.