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rs33941849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs33941849(C;C)
Make rs33941849(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227020
GeneHBB
is asnp
is mentioned by
dbSNPrs33941849
ebirs33941849
HLIrs33941849
Exacrs33941849
Varsomers33941849
Maprs33941849
PheGenIrs33941849
hapmaprs33941849
1000 genomesrs33941849
hgdprs33941849
ensemblrs33941849
gopubmedrs33941849
geneviewrs33941849
scholarrs33941849
googlers33941849
pharmgkbrs33941849
gwascentralrs33941849
openSNPrs33941849
23andMers33941849
23andMe allrs33941849
SNP Nexus

SNPshotrs33941849
SNPdbers33941849
MSV3drs33941849
GWAS Ctlgrs33941849
Max Magnitude0
OMIM141900
Desc
Variant0344
Relatedalso
OMIM141900
Desc
Variant0345
Relatedalso
ClinVar
Risk rs33941849(A,C,G;A,C,G)
Alt rs33941849(A,C,G;A,C,G)
Reference rs33941849(T;T)
Significance Other
Disease beta^0^ Thalassemia Beta-thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia Beta-thalassemia, lermontov type beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248250A>C; NC_000011.9:g.5248250A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016691.25, RCV000016692.27, RCV000016693.27, RCV000029976.2,


[PMID 211197] Herpes simplex virus necleic acid synthesis following infection of non-permissive XC cells.


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


[PMID 10815781] Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean.


[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 2272840] An initiation codon mutation as a cause of a beta-thalassemia.


[PMID 1517111] A beta-thalassemia mutation found in Korea.


[PMID 2306523] A new single nucleotide change at the initiation codon (ATG----AGG) identified in amplified genomic DNA of a Chinese beta-thalassemic patient.


[PMID 16114187] A mutation of the beta-globin gene initiation codon, ATG-->AAG, found in a French Caucasian man.