rs63749882

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs63749882(A;A)

Make rs63749882(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

177331

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs63749882
dbSNP (classic)	rs63749882
ClinGen	rs63749882
ebi	rs63749882
HLI	rs63749882
Exac	rs63749882
Gnomad	rs63749882
Varsome	rs63749882
LitVar	rs63749882
Map	rs63749882
PheGenI	rs63749882
Biobank	rs63749882
1000 genomes	rs63749882
hgdp	rs63749882
ensembl	rs63749882
geneview	rs63749882
scholar	rs63749882
google	rs63749882
pharmgkb	rs63749882
gwascentral	rs63749882
openSNP	rs63749882
23andMe	rs63749882
SNPshot	rs63749882
SNPdbe	rs63749882
MSV3d	rs63749882
GWAS Ctlg	rs63749882

Max Magnitude

0

OMIM	141800
Desc
Variant	0110
Related	also

OMIM	141800
Desc
Variant	0113
Related	also

ClinVar
Risk	rs63749882(A;A) rs63749882(C;C)
Alt	rs63749882(A;A) rs63749882(C;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.