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rs34945623

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34945623(C;C)
Make rs34945623(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225696
GeneHBB
is asnp
is mentioned by
dbSNPrs34945623
ebirs34945623
HLIrs34945623
Exacrs34945623
Varsomers34945623
Maprs34945623
PheGenIrs34945623
hapmaprs34945623
1000 genomesrs34945623
hgdprs34945623
ensemblrs34945623
gopubmedrs34945623
geneviewrs34945623
scholarrs34945623
googlers34945623
pharmgkbrs34945623
gwascentralrs34945623
openSNPrs34945623
23andMers34945623
23andMe allrs34945623
SNP Nexus

SNPshotrs34945623
SNPdbers34945623
MSV3drs34945623
GWAS Ctlgrs34945623
Max Magnitude0
OMIM141900
Desc
Variant0167
Relatedalso


ClinVar
Risk rs34945623(C;C)
Alt rs34945623(C;C)
Reference rs34945623(G;G)
Significance Other
Disease HEMOGLOBIN MADRID
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MADRID
Reversed 1
HGVS NC_000011.9:g.5246926C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016478.2,



[PMID 4212046] Haemoglobin Madrid beta 115 (G17) alanine--proline: an unstable variant associated with haemolytic anaemia.


[PMID 8330978] Hb Madrid or alpha 2 beta (2)115(G17)Ala-->Pro in a black teenager.


[PMID 10870884] Hb Madrid [beta115(G17)Ala-->Pro] in a Korean family with chronic hemolytic anemia.