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rs33943001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33943001(A;A)
Make rs33943001(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226800
GeneHBB
is asnp
is mentioned by
dbSNPrs33943001
ebirs33943001
HLIrs33943001
Exacrs33943001
Varsomers33943001
Maprs33943001
PheGenIrs33943001
hapmaprs33943001
1000 genomesrs33943001
hgdprs33943001
ensemblrs33943001
gopubmedrs33943001
geneviewrs33943001
scholarrs33943001
googlers33943001
pharmgkbrs33943001
gwascentralrs33943001
openSNPrs33943001
23andMers33943001
23andMe allrs33943001
SNP Nexus

SNPshotrs33943001
SNPdbers33943001
MSV3drs33943001
GWAS Ctlgrs33943001
Max Magnitude0
OMIM141900
Desc
Variant0356
Relatedalso
OMIM141900
Desc
Variant0418
Relatedalso
ClinVar
Risk rs33943001(A,C;A,C)
Alt rs33943001(A,C;A,C)
Reference rs33943001(G;G)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248030C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016704.26,


[PMID 2200760] Beta-thalassemia in Turkey.


[PMID 2283297] A new beta-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus acceptor site (AG----AA).


[PMID 1517108] Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C).