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rs55870409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs55870409(C;C)
Make rs55870409(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173592
GeneHBA2
is asnp
is mentioned by
dbSNPrs55870409
dbSNP (classic)rs55870409
ClinGenrs55870409
ebirs55870409
HLIrs55870409
Exacrs55870409
Gnomadrs55870409
Varsomers55870409
LitVarrs55870409
Maprs55870409
PheGenIrs55870409
Biobankrs55870409
1000 genomesrs55870409
hgdprs55870409
ensemblrs55870409
geneviewrs55870409
scholarrs55870409
googlers55870409
pharmgkbrs55870409
gwascentralrs55870409
openSNPrs55870409
23andMers55870409
SNPshotrs55870409
SNPdbers55870409
MSV3drs55870409
GWAS Ctlgrs55870409
Max Magnitude0
OMIM141800
Desc
Variant0182
Relatedalso


ClinVar
Risk rs55870409(C;C)
Alt rs55870409(C;C)
Reference Rs55870409(T;T)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223591T>C
CLNSRC
CLNACC



[PMID 1390944] Hemoglobin Rouen (alpha-140 (HC2) Tyr-->His): alteration of the alpha-chain C-terminal region and moderate increase in oxygen affinity.


[PMID 1428951] Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2.