rs33921047

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in complete genomics

Make rs33921047(A;G)

Make rs33921047(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

177057

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs33921047
dbSNP (classic)	rs33921047
ClinGen	rs33921047
ebi	rs33921047
HLI	rs33921047
Exac	rs33921047
Gnomad	rs33921047
Varsome	rs33921047
LitVar	rs33921047
Map	rs33921047
PheGenI	rs33921047
Biobank	rs33921047
1000 genomes	rs33921047
hgdp	rs33921047
ensembl	rs33921047
geneview	rs33921047
scholar	rs33921047
google	rs33921047
pharmgkb	rs33921047
gwascentral	rs33921047
openSNP	rs33921047
23andMe	rs33921047
SNPshot	rs33921047
SNPdbe	rs33921047
MSV3d	rs33921047
GWAS Ctlg	rs33921047

Max Magnitude

0

OMIM	141800
Desc
Variant	0017
Related	also

OMIM	141800
Desc
Variant	0089
Related	also

ClinVar
Risk	rs33921047(C;C) rs33921047(G;G) rs33921047(T;T)
Alt	rs33921047(C;C) rs33921047(G;G) rs33921047(T;T)
Reference	Rs33921047(A;A)
Significance	Other
Disease	HEMOGLOBIN LILLE HEMOGLOBIN CHAPEL HILL
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN LILLE HEMOGLOBIN CHAPEL HILL
Reversed	0
HGVS	NC_000016.9:g.227056A>C; NC_000016.9:g.227056A>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017095.2, RCV000017004.2,

[PMID 7275663] Hemoglobin Lille, alpha 2 [74(EF3) Asp replaced by Ala] beta 2.

[PMID 8332] Hemoglobin Chapel Hill or alpha2 74 Asp replaced by Gly beta2.

[PMID 3754243] Hb Chapel Hill or alpha 274(EF3)Asp----Gly beta 2 observed in a Chinese family in association with beta-thalassemia.

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