Rs111033602

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033602(A;C)
Make rs111033602(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173264
GeneHBA2
is asnp
is mentioned by
dbSNPrs111033602
PheGenIrs111033602
nextbiors111033602
hapmaprs111033602
1000 genomesrs111033602
hgdprs111033602
ensemblrs111033602
gopubmedrs111033602
geneviewrs111033602
scholarrs111033602
googlers111033602
pharmgkbrs111033602
gwascentralrs111033602
openSNPrs111033602
23andMers111033602
23andMe allrs111033602
SNP Nexus

SNPshotrs111033602
SNPdbers111033602
MSV3drs111033602
Max Magnitude0
OMIM141850
Desc
Variant0019
Relatedalso
ClinVar
Risk rs111033602(C,G;C,G)
Alt rs111033602(C,G;C,G)
Reference rs111033602(A;A)
Significance Other
Disease HEMOGLOBIN DAVENPORT
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN DAVENPORT
Reversed 0
HGVS NC_000016.9:g.223263A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016928.1,


[PMID 6691995] Hb J-Singa (alpha-78 Asn leads to Asp), a newly discovered hemoglobin variant with the same amino acid substitution as one of the two present in Hb J-Singapore (alpha-78 Asn leads to, alpha-79 Ala leads to Gly).