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rs63749882

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63749882(A;A)
Make rs63749882(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177331
GeneHBA1
is asnp
is mentioned by
dbSNPrs63749882
ebirs63749882
HLIrs63749882
Exacrs63749882
Varsomers63749882
Maprs63749882
PheGenIrs63749882
hapmaprs63749882
1000 genomesrs63749882
hgdprs63749882
ensemblrs63749882
gopubmedrs63749882
geneviewrs63749882
scholarrs63749882
googlers63749882
pharmgkbrs63749882
gwascentralrs63749882
openSNPrs63749882
23andMers63749882
23andMe allrs63749882
SNP Nexus

SNPshotrs63749882
SNPdbers63749882
MSV3drs63749882
GWAS Ctlgrs63749882
Max Magnitude0
OMIM141800
Desc
Variant0110
Relatedalso
OMIM141800
Desc
Variant0113
Relatedalso
ClinVar
Risk rs63749882(A,C;A,C)
Alt rs63749882(A,C;A,C)
Reference rs63749882(G;G)
Significance Other
Disease HEMOGLOBIN O (INDONESIA) HEMOGLOBIN O (BUGINESE-X) HEMOGLOBIN BUGINESE-X HEMOGLOBIN O (OLIVIERE) HEMOGLOBIN OLIVIERE HEMOGLOBIN OLEANDER
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN O (INDONESIA) HEMOGLOBIN O (BUGINESE-X) HEMOGLOBIN BUGINESE-X HEMOGLOBIN O (OLIVIERE) HEMOGLOBIN OLIVIERE HEMOGLOBIN OLEANDER
Reversed 0
HGVS NC_000016.9:g.227330G>A; NC_000016.9:g.227330G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017127.2, RCV000017128.2, RCV000017129.2, RCV000017130.2, RCV000017131.2, RCV000017135.3,


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.


[PMID 11558897] The hemoglobin O mutation in Indonesia: distribution and phenotypic expression.


[PMID 6129203] Hemoglobin Oleander [alpha 116(GH4)Glu replaced by Gln beta 2]: structural and functional characterization.