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rs34718174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs34718174(A;A)
Make rs34718174(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226683
GeneHBB
is asnp
is mentioned by
dbSNPrs34718174
ebirs34718174
HLIrs34718174
Exacrs34718174
Varsomers34718174
Maprs34718174
PheGenIrs34718174
hapmaprs34718174
1000 genomesrs34718174
hgdprs34718174
ensemblrs34718174
gopubmedrs34718174
geneviewrs34718174
scholarrs34718174
googlers34718174
pharmgkbrs34718174
gwascentralrs34718174
openSNPrs34718174
23andMers34718174
23andMe allrs34718174
SNP Nexus

SNPshotrs34718174
SNPdbers34718174
MSV3drs34718174
GWAS Ctlgrs34718174
Max Magnitude0
OMIM141900
Desc
Variant0136
Relatedalso


ClinVar
Risk rs34718174(A;A)
Alt rs34718174(A;A)
Reference rs34718174(G;G)
Significance Pathogenic
Disease not specified
Variation info
Gene HBB
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.5247913C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016423.3,



[PMID 5856126] A new hemoglobin variant found in a Beduin tribe: Hemoglobin "Rambam".


[PMID 6048303] Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new beta-chain variants of haemoglobin A.


[PMID 9761252] Hemoglobin Rambam (beta69[E13]Gly-->Asp), a pitfall in the assessment of diabetic control: characterization by electrospray mass spectrometry and HPLC.


[PMID 10870889] Hb Rambam [beta69(E13)Gly-->Asp]/beta0-thalassemia [codon 5 (-CT)] in a family from Argentina.