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rs35511459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35511459(G;G)
Make rs35511459(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position176963
GeneHBA1
is asnp
is mentioned by
dbSNPrs35511459
ebirs35511459
HLIrs35511459
Exacrs35511459
Varsomers35511459
Maprs35511459
PheGenIrs35511459
hapmaprs35511459
1000 genomesrs35511459
hgdprs35511459
ensemblrs35511459
gopubmedrs35511459
geneviewrs35511459
scholarrs35511459
googlers35511459
pharmgkbrs35511459
gwascentralrs35511459
openSNPrs35511459
23andMers35511459
23andMe allrs35511459
SNP Nexus

SNPshotrs35511459
SNPdbers35511459
MSV3drs35511459
GWAS Ctlgrs35511459
Max Magnitude0
OMIM141800
Desc
Variant0150
Relatedalso
ClinVar
Risk rs35511459(G;G)
Alt rs35511459(G;G)
Reference rs35511459(T;T)
Significance Other
Disease HEMOGLOBIN TORINO
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN TORINO
Reversed 0
HGVS NC_000016.9:g.226962T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017169.2,


[PMID 826080] A drug-induced haemolytic anaemia due to Hb Torino (alpha43(CD1)Phe replaced by Val). second finding in an Italian family.


[PMID 3401329] Determination of neutral haemoglobin variants by immobilized pH gradient, reversed-phase high-performance liquid chromatography and fast-atom bombardment mass spectrometry: the case of a Hb Torino alpha 43 (CE1) Phe----Val.


[PMID 3718724] Further studies on the oxygen affinity of whole blood containing two different haemoglobins: I. The case of Hb-A associated with one hypoaffine Hb.


[PMID 4041267] Functional properties of the unstable Hb-Torino: alpha 43 (CD-1) Phe-Val.


[PMID 5453914] Haemolytic anaemia due to haemoglobin Torino.


[PMID 5643522] Haemoglobin Torino--alpha-43 (CD1) phenylalanine replaced by valine.


[PMID 7177688] A new case of Hb Torino found in a Lebanese woman.