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Rs111033603

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Orientationplus
is asnp
is mentioned by
dbSNPrs111033603
PheGenIrs111033603
hapmaprs111033603
1000 genomesrs111033603
hgdprs111033603
ensemblrs111033603
gopubmedrs111033603
geneviewrs111033603
scholarrs111033603
googlers111033603
pharmgkbrs111033603
gwascentralrs111033603
openSNPrs111033603
23andMers111033603
23andMe allrs111033603
SNP Nexus

SNPshotrs111033603
SNPdbers111033603
MSV3drs111033603
GeneHBA2
Merged fromRs28928888
Chromosome16
Orientationplus
Position172914
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033603(C;C)
Make rs111033603(C;T)
OMIM141850
Desc
Variant0020
Relatedalso
ClinVar
Risk rs111033603(C;C)
Alt rs111033603(C;C)
Reference rs111033603(T;T)
Significance 5
Disease alpha Thalassemia
ClinVar info
Gene HBA2
CLNDBN alpha Thalassemia
Reversed 0
CLNHGVS NC_000016.9:g.222913T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016929.25


[PMID 6490612] Initiation codon mutation as a cause of alpha thalassemia.