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rs35348864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common in complete genomics
(I;I) 0
Make rs35348864(-;CGG)
Make rs35348864(CGG;CGG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226798
GeneHBB
is asnp
is mentioned by
dbSNPrs35348864
ebirs35348864
HLIrs35348864
Exacrs35348864
Varsomers35348864
Maprs35348864
PheGenIrs35348864
hapmaprs35348864
1000 genomesrs35348864
hgdprs35348864
ensemblrs35348864
gopubmedrs35348864
geneviewrs35348864
scholarrs35348864
googlers35348864
pharmgkbrs35348864
gwascentralrs35348864
openSNPrs35348864
23andMers35348864
23andMe allrs35348864
SNP Nexus

SNPshotrs35348864
SNPdbers35348864
MSV3drs35348864
GWAS Ctlgrs35348864
Max Magnitude0
OMIM141900
Desc
Variant0468
Relatedalso


ClinVar
Risk rs35348864(GGC;GGC)
Alt rs35348864(GGC;GGC)
Reference rs35348864(;)
Significance Pathogenic
Disease Beta-thalassemia dominant
Variation info
Gene HBB
CLNDBN Beta-thalassemia dominant
Reversed 1
HGVS NC_000011.9:g.5248028_5248029insCCG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016821.26,



[PMID 8703815] The dominant beta-thalassaemia in a Spanish family is due to a frameshift that introduces an extra CGG codon ( = arginine) at the 5' end of the second exon.