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rs63751201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63751201(-;-)
Make rs63751201(-;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225714
GeneHBB
is asnp
is mentioned by
dbSNPrs63751201
ebirs63751201
HLIrs63751201
Exacrs63751201
Varsomers63751201
Maprs63751201
PheGenIrs63751201
hapmaprs63751201
1000 genomesrs63751201
hgdprs63751201
ensemblrs63751201
gopubmedrs63751201
geneviewrs63751201
scholarrs63751201
googlers63751201
pharmgkbrs63751201
gwascentralrs63751201
openSNPrs63751201
23andMers63751201
23andMe allrs63751201
SNP Nexus

SNPshotrs63751201
SNPdbers63751201
MSV3drs63751201
GWAS Ctlgrs63751201
Max Magnitude0
OMIM141900
Desc
Variant0422
Relatedalso
ClinVar
Risk
Alt
Reference Rs63751201(G;G)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246944delC
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016687.25,


[PMID 1586746] Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.