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rs63751128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs63751128(A;G)
Make rs63751128(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225487
GeneHBB
is asnp
is mentioned by
dbSNPrs63751128
ebirs63751128
HLIrs63751128
Exacrs63751128
Varsomers63751128
Maprs63751128
PheGenIrs63751128
hapmaprs63751128
1000 genomesrs63751128
hgdprs63751128
ensemblrs63751128
gopubmedrs63751128
geneviewrs63751128
scholarrs63751128
googlers63751128
pharmgkbrs63751128
gwascentralrs63751128
openSNPrs63751128
23andMers63751128
23andMe allrs63751128
SNP Nexus

SNPshotrs63751128
SNPdbers63751128
MSV3drs63751128
GWAS Ctlgrs63751128
Max Magnitude0
OMIM141900
Desc
Variant0399
Relatedalso


ClinVar
Risk rs63751128(G;G)
Alt rs63751128(G;G)
Reference rs63751128(A;A)
Significance Pathogenic
Disease Beta-plus-thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia
Reversed 1
HGVS NC_000011.9:g.5246717T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016748.23,



[PMID 20808897OA-icon.png] Disease-associated mutations that alter the RNA structural ensemble.


[PMID 2375910] Two novel polyadenylation mutations leading to beta(+)-thalassemia.