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rs34870172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34870172(G;G)
Make rs34870172(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226656
GeneHBB
is asnp
is mentioned by
dbSNPrs34870172
dbSNP (classic)rs34870172
ClinGenrs34870172
ebirs34870172
HLIrs34870172
Exacrs34870172
Gnomadrs34870172
Varsomers34870172
LitVarrs34870172
Maprs34870172
PheGenIrs34870172
Biobankrs34870172
1000 genomesrs34870172
hgdprs34870172
ensemblrs34870172
geneviewrs34870172
scholarrs34870172
googlers34870172
pharmgkbrs34870172
gwascentralrs34870172
openSNPrs34870172
23andMers34870172
SNPshotrs34870172
SNPdbers34870172
MSV3drs34870172
GWAS Ctlgrs34870172
Max Magnitude0
OMIM141900
Desc
Variant0229
Relatedalso


ClinVar
Risk rs34870172(G;G)
Alt rs34870172(G;G)
Reference Rs34870172(T;T)
Significance Other
Disease HEMOGLOBIN QUIN-HAI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN QUIN-HAI
Reversed 1
HGVS NC_000011.9:g.5247886A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016554.2,



[PMID 6629822] Hemoglobin Quin-Hai, beta 78 (EF2) Leu replaced by Arg, a new abnormal hemoglobin found in Guangdong, China.