Have questions? Visit https://www.reddit.com/r/SNPedia

rs63750837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs63750837(-;-)
Make rs63750837(-;ACG)
Make rs63750837(ACG;ACG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226597
GeneHBB
is asnp
is mentioned by
dbSNPrs63750837
ebirs63750837
HLIrs63750837
Exacrs63750837
Varsomers63750837
Maprs63750837
PheGenIrs63750837
hapmaprs63750837
1000 genomesrs63750837
hgdprs63750837
ensemblrs63750837
gopubmedrs63750837
geneviewrs63750837
scholarrs63750837
googlers63750837
pharmgkbrs63750837
gwascentralrs63750837
openSNPrs63750837
23andMers63750837
23andMe allrs63750837
SNP Nexus

SNPshotrs63750837
SNPdbers63750837
MSV3drs63750837
GWAS Ctlgrs63750837
Max Magnitude0
OMIM141900
Desc
Variant0390
Relatedalso
ClinVar
Risk rs63750837(ACGT,T;ACGT,T)
Alt rs63750837(ACGT,T;ACGT,T)
Reference rs63750837(ACG;ACG)
Significance Other
Disease HEMOGLOBIN GALICIA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN GALICIA
Reversed 1
HGVS NC_000011.9:g.5247827_5247829delCGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000016737.2,


[PMID 2158827] Hemoglobin Birmingham and hemoglobin Galicia: two unstable beta chain variants characterized by small deletions and insertions.