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rs63750945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs63750945(-;-)
Make rs63750945(-;CC)
ReferenceGRCh37.p5 37.3/137
Chromosome11
Position5248004
GeneHBB
is asnp
is mentioned by
dbSNPrs63750945
ebirs63750945
HLIrs63750945
Exacrs63750945
Varsomers63750945
Maprs63750945
PheGenIrs63750945
hapmaprs63750945
1000 genomesrs63750945
hgdprs63750945
ensemblrs63750945
gopubmedrs63750945
geneviewrs63750945
scholarrs63750945
googlers63750945
pharmgkbrs63750945
gwascentralrs63750945
openSNPrs63750945
23andMers63750945
23andMe allrs63750945
SNP Nexus

SNPshotrs63750945
SNPdbers63750945
MSV3drs63750945
GWAS Ctlgrs63750945
StatusDeleted
Max Magnitude0
OMIM141900
Desc
Variant0463
Relatedalso


ClinVar
Risk rs63750945(;)
Alt rs63750945(;)
Reference rs63750945(CC;CC)
Significance Pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248005_5248006delGG
CLNSRC OMIM Allelic Variant
CLNACC SCV000037087.1,