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rs63750860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCTG;GCTG) 0 common in clinvar
Make rs63750860(CCACA;CCACA)
Make rs63750860(CCACA;GCTG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225654
GeneHBB
is asnp
is mentioned by
dbSNPrs63750860
ebirs63750860
HLIrs63750860
Exacrs63750860
Varsomers63750860
Maprs63750860
PheGenIrs63750860
hapmaprs63750860
1000 genomesrs63750860
hgdprs63750860
ensemblrs63750860
gopubmedrs63750860
geneviewrs63750860
scholarrs63750860
googlers63750860
pharmgkbrs63750860
gwascentralrs63750860
openSNPrs63750860
23andMers63750860
23andMe allrs63750860
SNP Nexus

SNPshotrs63750860
SNPdbers63750860
MSV3drs63750860
GWAS Ctlgrs63750860
Max Magnitude0
ClinVar
Risk rs63750860(CCACA;CCACA)
Alt rs63750860(CCACA;CCACA)
Reference rs63750860(GCTG;GCTG)
Significance Pathogenic
Disease Beta-thalassemia
Variation info
Gene HBB
CLNDBN Beta-thalassemia, dominant inclusion body type
Reversed 1
HGVS NC_000011.9:g.5246884_5246887delCAGCinsTGTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000016876.26,



[PMID 1971109OA-icon.png] Molecular basis for dominantly inherited inclusion body beta-thalassemia.


[PMID 4351905] A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia.