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rs35117167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs35117167(A;G)
Make rs35117167(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225605
GeneHBB
is asnp
is mentioned by
dbSNPrs35117167
ebirs35117167
HLIrs35117167
Exacrs35117167
Varsomers35117167
Maprs35117167
PheGenIrs35117167
hapmaprs35117167
1000 genomesrs35117167
hgdprs35117167
ensemblrs35117167
gopubmedrs35117167
geneviewrs35117167
scholarrs35117167
googlers35117167
pharmgkbrs35117167
gwascentralrs35117167
openSNPrs35117167
23andMers35117167
23andMe allrs35117167
SNP Nexus

SNPshotrs35117167
SNPdbers35117167
MSV3drs35117167
GWAS Ctlgrs35117167
Max Magnitude0
OMIM141900
Desc
Variant0232
Relatedalso


ClinVar
Risk rs35117167(G;G)
Alt rs35117167(G;G)
Reference rs35117167(A;A)
Significance Other
Disease HEMOGLOBIN RAINIER
Variation info
Gene HBB
CLNDBN HEMOGLOBIN RAINIER
Reversed 1
HGVS NC_000011.9:g.5246835T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016562.2,



[PMID 478981] Hb Rainier or alpha 2 beta 2 (145 (HC2) Tyr replaced by Cys) observed in members of a Canadian family of Greek origin.


[PMID 3793825] Isolation of human haemoglobin variants with altered Bohr effect. Application to haemoglobin Rainier.


[PMID 5019947] Oxygen equilibrium and circular dichroism of hemoglobin-Rainer ( 2 2 1 45Tyr leads to Cys).


[PMID 5796352OA-icon.png] Erythrocytosis associated with hemoglobin Rainier: oxygen equilibria and marrow regulation.


[PMID 10335979] Hb Rainier [beta145(HC2)Tyr-->Cys] in Italy. Characterization of the amino acid substitution and the DNA mutation.