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rs63750915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(D;D) 0
(TATTTTCCCACCCTTAG;TATTTTCCCACCCTTAG) 0 common in clinvar
Make rs63750915(-;-)
Make rs63750915(-;TATTTTCCCACCCTTAG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226800
GeneHBB
is asnp
is mentioned by
dbSNPrs63750915
dbSNP (classic)rs63750915
ClinGenrs63750915
ebirs63750915
HLIrs63750915
Exacrs63750915
Gnomadrs63750915
Varsomers63750915
LitVarrs63750915
Maprs63750915
PheGenIrs63750915
Biobankrs63750915
1000 genomesrs63750915
hgdprs63750915
ensemblrs63750915
geneviewrs63750915
scholarrs63750915
googlers63750915
pharmgkbrs63750915
gwascentralrs63750915
openSNPrs63750915
23andMers63750915
SNPshotrs63750915
SNPdbers63750915
MSV3drs63750915
GWAS Ctlgrs63750915
Max Magnitude0
OMIM141900
Desc
Variant0351
Relatedalso


ClinVar
Risk
Alt
Reference Rs63750915(TATTTTCCCACCCTTAG;TATTTTCCCACCCTTAG)
Significance Pathogenic
Disease
Variation info
Gene HBB
CLNDBN
Reversed 1
HGVS NC_000011.9:g.5248030_5248046delCTAAGGGTGGGAAAATA
CLNSRC
CLNACC



[PMID 3048433] Molecular basis and prenatal diagnosis of beta-thalassemia.