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rs34502690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGG;AGG) 1 conflicting information
(D;D) 0 very common
Make rs34502690(-;AGG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225657
GeneHBB
is asnp
is mentioned by
dbSNPrs34502690
ebirs34502690
HLIrs34502690
Exacrs34502690
Varsomers34502690
Maprs34502690
PheGenIrs34502690
hapmaprs34502690
1000 genomesrs34502690
hgdprs34502690
ensemblrs34502690
gopubmedrs34502690
geneviewrs34502690
scholarrs34502690
googlers34502690
pharmgkbrs34502690
gwascentralrs34502690
openSNPrs34502690
23andMers34502690
23andMe allrs34502690
SNP Nexus

SNPshotrs34502690
SNPdbers34502690
MSV3drs34502690
GWAS Ctlgrs34502690
Max Magnitude1
OMIM141900
Desc
Variant0320
Relatedalso


ClinVar
Risk rs34502690(;)
Alt rs34502690(;)
Reference rs34502690(AGG;AGG)
Significance Pathogenic
Disease Beta-plus-thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia
Reversed 1
HGVS NC_000011.9:g.5246887_5246889delCCT
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016665.26,



[PMID 2224139] Three-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta gunma) with a thalassemia-like phenotype.


[PMID 2634667] Characterization of beta-thalassemia mutations among the Japanese.


[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.