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rs33960103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs33960103(C;C)
Make rs33960103(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226930
GeneHBB
is asnp
is mentioned by
dbSNPrs33960103
ebirs33960103
HLIrs33960103
Exacrs33960103
Varsomers33960103
Maprs33960103
PheGenIrs33960103
hapmaprs33960103
1000 genomesrs33960103
hgdprs33960103
ensemblrs33960103
gopubmedrs33960103
geneviewrs33960103
scholarrs33960103
googlers33960103
pharmgkbrs33960103
gwascentralrs33960103
openSNPrs33960103
23andMers33960103
23andMe allrs33960103
SNP Nexus

SNPshotrs33960103
SNPdbers33960103
MSV3drs33960103
GWAS Ctlgrs33960103
Max Magnitude0
OMIM141900
Desc
Variant0144
Relatedalso
ClinVar
Risk rs33960103(A,C;A,C)
Alt rs33960103(A,C;A,C)
Reference rs33960103(G;G)
Significance Pathogenic
Disease beta Thalassemia Beta thalassemia major
Variation info
Gene HBB
CLNDBN beta Thalassemia Beta thalassemia major
Reversed 1
HGVS NC_000011.9:g.5248160C>G; NC_000011.9:g.5248160C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016432.7, RCV000030007.1, RCV000030006.1,


[PMID 1772786] Rare beta-thalassaemia mutations in Asian indians.


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


[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.


[PMID 1917531] Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians.


[PMID 2539344] Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron.


[PMID 3422218] The peculiar spectrum of beta-thalassemia genes in Tunisia.


[PMID 8330981] IVS-I-1 (G-->C) in combination with -42 (C-->G) in the promoter region of the beta-globin gene in patients from Tajikistan.


[PMID 9140720] A significant beta-thalassemia heterogeneity in the United Arab Emirates.


[PMID 1802886] Hemoglobinopathies among the Gond tribal groups of central India; interaction of alpha- and beta-thalassemia with beta chain variants.


[PMID 2915972OA-icon.png] A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.


[PMID 2577233OA-icon.png] The molecular basis of beta thalassaemia in Bulgaria.