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rs63751218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTGA;AGTGA) 0 common in clinvar
(I;I) 0
Make rs63751218(AGTGA;T)
Make rs63751218(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226671
GeneHBB
is asnp
is mentioned by
dbSNPrs63751218
ebirs63751218
HLIrs63751218
Exacrs63751218
Varsomers63751218
Maprs63751218
PheGenIrs63751218
hapmaprs63751218
1000 genomesrs63751218
hgdprs63751218
ensemblrs63751218
gopubmedrs63751218
geneviewrs63751218
scholarrs63751218
googlers63751218
pharmgkbrs63751218
gwascentralrs63751218
openSNPrs63751218
23andMers63751218
23andMe allrs63751218
SNP Nexus

SNPshotrs63751218
SNPdbers63751218
MSV3drs63751218
GWAS Ctlgrs63751218
Max Magnitude0
OMIM141900
Desc
Variant0472
Relatedalso


ClinVar
Risk rs63751218(T;T)
Alt rs63751218(T;T)
Reference rs63751218(AGTGA;AGTGA)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247901_5247905delTCACTinsA
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016826.26,



[PMID 9255617] Novel beta 0-thalassemia mutation in a Canadian woman of British descent (codons 72/73, -AGTGA, +T).