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rs33972047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs33972047(A;G)
Make rs33972047(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226963
GeneHBB
is asnp
is mentioned by
dbSNPrs33972047
ebirs33972047
HLIrs33972047
Exacrs33972047
Varsomers33972047
Maprs33972047
PheGenIrs33972047
hapmaprs33972047
1000 genomesrs33972047
hgdprs33972047
ensemblrs33972047
gopubmedrs33972047
geneviewrs33972047
scholarrs33972047
googlers33972047
pharmgkbrs33972047
gwascentralrs33972047
openSNPrs33972047
23andMers33972047
23andMe allrs33972047
SNP Nexus

SNPshotrs33972047
SNPdbers33972047
MSV3drs33972047
GWAS Ctlgrs33972047
Max Magnitude0
OMIM141900
Desc
Variant0168
Relatedalso


ClinVar
Risk rs33972047(G;G)
Alt rs33972047(G;G)
Reference rs33972047(A;A)
Significance Other
Disease HEMOGLOBIN MALAY Beta-plus-thalassemia Beta-malay-thalassemia alpha Thalassemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MALAY Beta-plus-thalassemia Beta-malay-thalassemia alpha Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248193T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016479.2, RCV000016480.26, RCV000016481.26, RCV000020338.1,



[PMID 2736244] Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major.


[PMID 2393018OA-icon.png] The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis.


[PMID 10861818] beta-thalassemia intermedia caused by compound heterozygosity for Hb Malay (beta codon 19 AAC-->AGC; asn-->Ser) and codons 41/42 (-CTTT) beta(0)-thalassemia mutation.