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rs34823698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34823698(A;G)
Make rs34823698(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177038
GeneHBA1
is asnp
is mentioned by
dbSNPrs34823698
ebirs34823698
HLIrs34823698
Exacrs34823698
Varsomers34823698
Maprs34823698
PheGenIrs34823698
hapmaprs34823698
1000 genomesrs34823698
hgdprs34823698
ensemblrs34823698
gopubmedrs34823698
geneviewrs34823698
scholarrs34823698
googlers34823698
pharmgkbrs34823698
gwascentralrs34823698
openSNPrs34823698
23andMers34823698
23andMe allrs34823698
SNP Nexus

SNPshotrs34823698
SNPdbers34823698
MSV3drs34823698
GWAS Ctlgrs34823698
Max Magnitude0
OMIM141800
Desc
Variant0154
Relatedalso
ClinVar
Risk rs34823698(C,G,T;C,G,T)
Alt rs34823698(C,G,T;C,G,T)
Reference rs34823698(A;A)
Significance Other
Disease HEMOGLOBIN UBE-2
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN UBE-2
Reversed 0
HGVS NC_000016.9:g.227037A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017176.2,


[PMID 5416123] Studies on the function of abnormal hemoglobins. II. Oxygen equilibrium of abnormal hemoglobins: Shimonoseki, Ube II, Hikari, Gifu, and Agenogi.


[PMID 6035181] Amino acid substitution of hemoglobin Ube 2 (alpha-2 68asp beta-2): an example of successful application of partial hydrolysis of peptide with 5 per cent acetic acid.


[PMID 11939522] Hb Ube-2 in a Taiwanese subject: an A-->G substitution at codon 68 of the alpha2-globin gene.


[PMID 18473246] Hb Jeddah [alpha68(E17)Asn-->His (alpha1)]: a newly recognized alpha chain variant, seen in combination with Hb S [beta6(A3)Glu-->Val], and found in three separate families of middle eastern origin.