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rs34083951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34083951(C;G)
Make rs34083951(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226613
GeneHBB
is asnp
is mentioned by
dbSNPrs34083951
ebirs34083951
HLIrs34083951
Exacrs34083951
Varsomers34083951
Maprs34083951
PheGenIrs34083951
hapmaprs34083951
1000 genomesrs34083951
hgdprs34083951
ensemblrs34083951
gopubmedrs34083951
geneviewrs34083951
scholarrs34083951
googlers34083951
pharmgkbrs34083951
gwascentralrs34083951
openSNPrs34083951
23andMers34083951
23andMe allrs34083951
SNP Nexus

SNPshotrs34083951
SNPdbers34083951
MSV3drs34083951
GWAS Ctlgrs34083951
Max Magnitude0
OMIM141900
Desc
Variant0118
Relatedalso
ClinVar
Risk rs34083951(A,G;A,G)
Alt rs34083951(A,G;A,G)
Reference rs34083951(C;C)
Significance Other
Disease Hemolytic anemia
Variation info
Gene HBB
CLNDBN Hemolytic anemia
Reversed 1
HGVS NC_000011.10:g.5226613G>Y
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016395.3,


[PMID 4639022OA-icon.png] Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92) ).


[PMID 10870887] Hb Saint Etienne or Hb Istanbul [beta92(F8)His-->Gln] found in an Argentinean family.