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rs34726542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs34726542(A;C)
Make rs34726542(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225679
GeneHBB
is asnp
is mentioned by
dbSNPrs34726542
ebirs34726542
HLIrs34726542
Exacrs34726542
Varsomers34726542
Maprs34726542
PheGenIrs34726542
hapmaprs34726542
1000 genomesrs34726542
hgdprs34726542
ensemblrs34726542
gopubmedrs34726542
geneviewrs34726542
scholarrs34726542
googlers34726542
pharmgkbrs34726542
gwascentralrs34726542
openSNPrs34726542
23andMers34726542
23andMe allrs34726542
SNP Nexus

SNPshotrs34726542
SNPdbers34726542
MSV3drs34726542
GWAS Ctlgrs34726542
Max Magnitude0
OMIM141900
Desc
Variant0239
Relatedalso
ClinVar
Risk rs34726542(C;C)
Alt rs34726542(C;C)
Reference rs34726542(A;A)
Significance Pathogenic
Disease not specified
Variation info
Gene HBB
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.5246909T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016568.3,


[PMID 511584] Hemoglobin Riyadh-beta 0-thalassemia in an Indian family.


[PMID 893129] Hemoglobin Riyadh in a Mexican American family of Spanish ancestry.


[PMID 1052171] Hemoglobin Riyadh--alpha2beta2 (120(GH3)Lys replaced by Asn). A new variant found in association with alpha-thalassemia and iron deficiency.