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rs34305195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs34305195(A;C)
Make rs34305195(C;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position5227071
GeneHBB
is asnp
is mentioned by
dbSNPrs34305195
ebirs34305195
HLIrs34305195
Exacrs34305195
Varsomers34305195
Maprs34305195
PheGenIrs34305195
hapmaprs34305195
1000 genomesrs34305195
hgdprs34305195
ensemblrs34305195
gopubmedrs34305195
geneviewrs34305195
scholarrs34305195
googlers34305195
pharmgkbrs34305195
gwascentralrs34305195
openSNPrs34305195
23andMers34305195
23andMe allrs34305195
SNP Nexus

SNPshotrs34305195
SNPdbers34305195
MSV3drs34305195
GWAS Ctlgrs34305195
Max Magnitude0
OMIM141900
Desc
Variant0387
Relatedalso


ClinVar
Risk rs34305195(C;C)
Alt rs34305195(C;C)
Reference rs34305195(A;A)
Significance Probable-Pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248301T>G
CLNSRC ClinVar GTR
CLNACC RCV000029957.1,



[PMID 914072] [Etiology of protodiastolic murmur in patients with aortic prosthesis].


[PMID 3683554] Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.


[PMID 12709369] Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.


[PMID 18294253] Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.


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


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