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rs281864900

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) Usually transfusion-dependent.
(-;CTTT) Typical for a beta zero-thal heterozygote with modest anemia, microcytosis, and hypochromia
(CTTT;CTTT) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position5226763
GeneHBB
is asnp
is mentioned by
dbSNPrs281864900
ebirs281864900
HLIrs281864900
Exacrs281864900
Varsomers281864900
Maprs281864900
PheGenIrs281864900
hapmaprs281864900
1000 genomesrs281864900
hgdprs281864900
ensemblrs281864900
gopubmedrs281864900
geneviewrs281864900
scholarrs281864900
googlers281864900
pharmgkbrs281864900
gwascentralrs281864900
openSNPrs281864900
23andMers281864900
23andMe allrs281864900
SNP Nexus

SNPshotrs281864900
SNPdbers281864900
MSV3drs281864900
GWAS Ctlgrs281864900
Max Magnitude0
ClinVar
Risk rs281864900(;)
Alt rs281864900(;)
Reference rs281864900(CTTT;CTTT)
Significance Pathogenic
Disease beta^0^ Thalassemia alpha Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia alpha Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247993_5247996delAAAG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016673.26, RCV000020328.1,



[PMID 6826539] Structural analysis of a beta-thalassemia gene found in Taiwan.

[PMID 21250879] Molecular spectrum of α- and β-globin gene mutations detected in the population of Guangxi Zhuang Autonomous Region, People's Republic of China.

[PMID 20113289] Molecular epidemiology investigation of beta-thalassemia in Zhongshan City, Guangdong Province, People's Republic of China.