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rs63750783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750783(A;A)
Make rs63750783(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226975
GeneHBB
is asnp
is mentioned by
dbSNPrs63750783
ebirs63750783
HLIrs63750783
Exacrs63750783
Varsomers63750783
Maprs63750783
PheGenIrs63750783
hapmaprs63750783
1000 genomesrs63750783
hgdprs63750783
ensemblrs63750783
gopubmedrs63750783
geneviewrs63750783
scholarrs63750783
googlers63750783
pharmgkbrs63750783
gwascentralrs63750783
openSNPrs63750783
23andMers63750783
23andMe allrs63750783
SNP Nexus

SNPshotrs63750783
SNPdbers63750783
MSV3drs63750783
GWAS Ctlgrs63750783
Max Magnitude0
OMIM141900
Desc
Variant0313
Relatedalso


ClinVar
Risk rs63750783(A;A)
Alt rs63750783(A;A)
Reference rs63750783(G;G)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248205C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016657.26,



[PMID 2298457] Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.


[PMID 7668221] Hb Lulu Island (alpha 2 beta 2 107[G9]Gly-->Asp)-beta zero- thalassemia (codon 15; TGG-->TAG), a form of thalassemia intermedia.