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rs35939430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35939430(C;C)
Make rs35939430(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225654
GeneHBB
is asnp
is mentioned by
dbSNPrs35939430
ebirs35939430
HLIrs35939430
Exacrs35939430
Varsomers35939430
Maprs35939430
PheGenIrs35939430
hapmaprs35939430
1000 genomesrs35939430
hgdprs35939430
ensemblrs35939430
gopubmedrs35939430
geneviewrs35939430
scholarrs35939430
googlers35939430
pharmgkbrs35939430
gwascentralrs35939430
openSNPrs35939430
23andMers35939430
23andMe allrs35939430
SNP Nexus

SNPshotrs35939430
SNPdbers35939430
MSV3drs35939430
GWAS Ctlgrs35939430
Max Magnitude0
OMIM141900
Desc
Variant0058
Relatedalso
ClinVar
Risk rs35939430(A,C;A,C)
Alt rs35939430(A,C;A,C)
Reference rs35939430(G;G)
Significance Other
Disease HEMOGLOBIN CRETE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CRETE
Reversed 1
HGVS NC_000011.9:g.5246884C>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016309.2,


[PMID 36184] Hemoglobin Crete (beta 129 ala leads to pro): a new high-affinity variant interacting with beta o -and delta beta o -thalassemia.


[PMID 15658190] Molecular characterization and diagnosis of Hb Crete [beta129(H7)Ala-->Pro].