rs121909803

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Alpha-thalassemia allele carrier

Make rs121909803(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

172913

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs121909803
dbSNP (classic)	rs121909803
ClinGen	rs121909803
ebi	rs121909803
HLI	rs121909803
Exac	rs121909803
Gnomad	rs121909803
Varsome	rs121909803
LitVar	rs121909803
Map	rs121909803
PheGenI	rs121909803
Biobank	rs121909803
1000 genomes	rs121909803
hgdp	rs121909803
ensembl	rs121909803
geneview	rs121909803
scholar	rs121909803
google	rs121909803
pharmgkb	rs121909803
gwascentral	rs121909803
openSNP	rs121909803
23andMe	rs121909803
SNPshot	rs121909803
SNPdbe	rs121909803
MSV3d	rs121909803
GWAS Ctlg	rs121909803

Max Magnitude

3

OMIM	141850
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121909803(G;G)
Alt	rs121909803(G;G)
Reference	Rs121909803(A;A)
Significance	Pathogenic
Disease	Hemoglobin H disease
Variation	info
Gene	HBA2
CLNDBN	Hemoglobin H disease, nondeletional
Reversed	0
HGVS	NC_000016.9:g.222912A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016931.4,

[PMID 3620699] An alpha-globin gene initiation codon mutation in a black family with HbH disease.