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rs34378160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34378160(C;C)
Make rs34378160(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226764
GeneHBB
is asnp
is mentioned by
dbSNPrs34378160
ebirs34378160
HLIrs34378160
Exacrs34378160
Varsomers34378160
Maprs34378160
PheGenIrs34378160
hapmaprs34378160
1000 genomesrs34378160
hgdprs34378160
ensemblrs34378160
gopubmedrs34378160
geneviewrs34378160
scholarrs34378160
googlers34378160
pharmgkbrs34378160
gwascentralrs34378160
openSNPrs34378160
23andMers34378160
23andMe allrs34378160
SNP Nexus

SNPshotrs34378160
SNPdbers34378160
MSV3drs34378160
GWAS Ctlgrs34378160
Max Magnitude0
OMIM141900
Desc
Variant0100
Relatedalso


ClinVar
Risk rs34378160(C,G;C,G)
Alt rs34378160(C,G;C,G)
Reference rs34378160(T;T)
Significance Other
Disease HEMOGLOBIN HAMMERSMITH HEMOGLOBIN CHIBA Heinz body anemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HAMMERSMITH HEMOGLOBIN CHIBA Heinz body anemia
Reversed 1
HGVS NC_000011.9:g.5247994A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016371.2, RCV000016372.2, RCV000016373.26,



[PMID 1201210] The oxygen affinity of haemoglobin Hammersmith.


[PMID 1634359] The unstable Hb Hammersmith or alpha 2 beta 2(42)(CD1)Phe----Ser observed in an Indian child; identification by HPLC and by sequence analysis of amplified DNA.


[PMID 6082463] Haemoglobin Hammersmith (beta-42 (CDI) Phe replaced by ser).


[PMID 9856680] Hb Hammersmith [beta 42(CD1) Phe-->Ser]: occurrence as a de novo mutation in black monozygotic twins with multiple congenital anomalies.