rs111033603

Orientation

plus

Stabilized

plus

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

Make rs111033603(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

172914

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs111033603
dbSNP (classic)	rs111033603
ClinGen	rs111033603
ebi	rs111033603
HLI	rs111033603
Exac	rs111033603
Gnomad	rs111033603
Varsome	rs111033603
LitVar	rs111033603
Map	rs111033603
PheGenI	rs111033603
Biobank	rs111033603
1000 genomes	rs111033603
hgdp	rs111033603
ensembl	rs111033603
geneview	rs111033603
scholar	rs111033603
google	rs111033603
pharmgkb	rs111033603
gwascentral	rs111033603
openSNP	rs111033603
23andMe	rs111033603
SNPshot	rs111033603
SNPdbe	rs111033603
MSV3d	rs111033603
GWAS Ctlg	rs111033603

Merged from

Rs28928888

Max Magnitude

3

OMIM	141850
Desc
Variant	0020
Related	also

ClinVar
Risk	rs111033603(C;C)
Alt	rs111033603(C;C)
Reference	Rs111033603(T;T)
Significance	Pathogenic
Disease	Alpha Thalassemia
Variation	info
Gene	HBA2
CLNDBN	alpha Thalassemia
Reversed	0
HGVS	NC_000016.9:g.222913T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016929.26,

[PMID 6490612] Initiation codon mutation as a cause of alpha thalassemia.