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rs34527846

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs34527846(A;A)
Make rs34527846(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226802
GeneHBB
is asnp
is mentioned by
dbSNPrs34527846
ebirs34527846
HLIrs34527846
Exacrs34527846
Varsomers34527846
Maprs34527846
PheGenIrs34527846
hapmaprs34527846
1000 genomesrs34527846
hgdprs34527846
ensemblrs34527846
gopubmedrs34527846
geneviewrs34527846
scholarrs34527846
googlers34527846
pharmgkbrs34527846
gwascentralrs34527846
openSNPrs34527846
23andMers34527846
23andMe allrs34527846
SNP Nexus

SNPshotrs34527846
SNPdbers34527846
MSV3drs34527846
GWAS Ctlgrs34527846
Max Magnitude0
OMIM141900
Desc
Variant0362
Relatedalso


ClinVar
Risk rs34527846(A,C,G;A,C,G)
Alt rs34527846(A,C,G;A,C,G)
Reference rs34527846(T;T)
Significance Probable-Pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248032A>C
CLNSRC ClinVar
CLNACC RCV000030011.1,



[PMID 1236816] [Electrophysiological studies of the forebrain-limbic inhibitory systems in relation to gonadotropin regulation (author's transl)].


[PMID 2920213] Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.


[PMID 8435318] Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient.


[PMID 19254853] Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.


[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).


[PMID 21119755OA-icon.png] Profiling beta-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.