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rs63751285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs63751285(C;C)
Make rs63751285(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226973
GeneHBB
is asnp
is mentioned by
dbSNPrs63751285
dbSNP (classic)rs63751285
ClinGenrs63751285
ebirs63751285
HLIrs63751285
Exacrs63751285
Gnomadrs63751285
Varsomers63751285
LitVarrs63751285
Maprs63751285
PheGenIrs63751285
Biobankrs63751285
1000 genomesrs63751285
hgdprs63751285
ensemblrs63751285
geneviewrs63751285
scholarrs63751285
googlers63751285
pharmgkbrs63751285
gwascentralrs63751285
openSNPrs63751285
23andMers63751285
SNPshotrs63751285
SNPdbers63751285
MSV3drs63751285
GWAS Ctlgrs63751285
Max Magnitude0
OMIM141900
Desc
Variant0060
Relatedalso
ClinVar
Risk rs63751285(C;C) rs63751285(T;T)
Alt rs63751285(C;C) rs63751285(T;T)
Reference Rs63751285(G;G)
Significance Other
Disease HEMOGLOBIN D (BUSHMAN)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN D (BUSHMAN)
Reversed 1
HGVS NC_000011.9:g.5248203C>G
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016311.2,


[PMID 6082467] Haemoglobin variant in a Bushman: haemoglobin D-beta-Bushman-alpha-beta-22-16-gly-arg.