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rs35854892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35854892(G;G)
Make rs35854892(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225617
GeneHBB
is asnp
is mentioned by
dbSNPrs35854892
ebirs35854892
HLIrs35854892
Exacrs35854892
Varsomers35854892
Maprs35854892
PheGenIrs35854892
hapmaprs35854892
1000 genomesrs35854892
hgdprs35854892
ensemblrs35854892
gopubmedrs35854892
geneviewrs35854892
scholarrs35854892
googlers35854892
pharmgkbrs35854892
gwascentralrs35854892
openSNPrs35854892
23andMers35854892
23andMe allrs35854892
SNP Nexus

SNPshotrs35854892
SNPdbers35854892
MSV3drs35854892
GWAS Ctlgrs35854892
Max Magnitude0
OMIM141900
Desc
Variant0208
Relatedalso


ClinVar
Risk rs35854892(G;G)
Alt rs35854892(G;G)
Reference rs35854892(T;T)
Significance Other
Disease HEMOGLOBIN OLMSTED
Variation info
Gene HBB
CLNDBN HEMOGLOBIN OLMSTED
Reversed 1
HGVS NC_000011.9:g.5246847A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016531.2,



[PMID 1125274] The amino acid substitution in Hb Olmsted: beta141 (H19) leucine yields arginine.


[PMID 5780360] Three families with unstable hemoglobinopathies (Koln, Olmsted and Santa Ana) causing hemolytic anemia with inclusion bodies and pigmenturia.


[PMID 9136923] Thromboembolic complication of splenectomy in unstable hemoglobin disorders: Hb Olmsted, Hb Koln.