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rs34387455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34387455(A;G)
Make rs34387455(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226999
GeneHBB
is asnp
is mentioned by
dbSNPrs34387455
ebirs34387455
HLIrs34387455
Exacrs34387455
Varsomers34387455
Maprs34387455
PheGenIrs34387455
hapmaprs34387455
1000 genomesrs34387455
hgdprs34387455
ensemblrs34387455
gopubmedrs34387455
geneviewrs34387455
scholarrs34387455
googlers34387455
pharmgkbrs34387455
gwascentralrs34387455
openSNPrs34387455
23andMers34387455
23andMe allrs34387455
SNP Nexus

SNPshotrs34387455
SNPdbers34387455
MSV3drs34387455
GWAS Ctlgrs34387455
Max Magnitude0
OMIM141900
Desc
Variant0086
Relatedalso


ClinVar
Risk rs34387455(G;G)
Alt rs34387455(G;G)
Reference rs34387455(A;A)
Significance Other
Disease HEMOGLOBIN G (SAN JOSE)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN G (SAN JOSE)
Reversed 1
HGVS NC_000011.9:g.5248229T>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016353.2,



[PMID 511180] Hemoglobin G San Jose [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family.


[PMID 2599885] Hb G-San Jose homozygosis in a Calabrian family.


[PMID 7353959] Hemoglobin G-San Jose (alpha 2 beta 2 7(A4)Glu replaced by Gly) in a Mexican family.


[PMID 11939513] Hb G-San Jose variant levels correlate with alpha-thalassemia genotypes.