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rs63750840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs63750840(C;G)
Make rs63750840(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226962
GeneHBB
is asnp
is mentioned by
dbSNPrs63750840
dbSNP (classic)rs63750840
ClinGenrs63750840
ebirs63750840
HLIrs63750840
Exacrs63750840
Gnomadrs63750840
Varsomers63750840
LitVarrs63750840
Maprs63750840
PheGenIrs63750840
Biobankrs63750840
1000 genomesrs63750840
hgdprs63750840
ensemblrs63750840
geneviewrs63750840
scholarrs63750840
googlers63750840
pharmgkbrs63750840
gwascentralrs63750840
openSNPrs63750840
23andMers63750840
SNPshotrs63750840
SNPdbers63750840
MSV3drs63750840
GWAS Ctlgrs63750840
Max Magnitude0
OMIM141900
Desc
Variant0064
Relatedalso
ClinVar
Risk rs63750840(A;A) rs63750840(G;G) rs63750840(T;T)
Alt rs63750840(A;A) rs63750840(G;G) rs63750840(T;T)
Reference Rs63750840(C;C)
Significance Other
Disease HEMOGLOBIN D (OULED RABAH)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN D (OULED RABAH)
Reversed 1
HGVS NC_000011.9:g.5248192G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016321.3,


[PMID 4719147] Two variants of hemoglobin D in the algerian population: hemoglobin D Ouled Rabah 19 (BI) Asn leads to Lys and hemoglobin D Iran 22 (Br) Glu leads to Gln.