rs33987053

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics
(G;T)	3	Alpha-thalassemia allele carrier

Make rs33987053(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

173520

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs33987053
dbSNP (classic)	rs33987053
ClinGen	rs33987053
ebi	rs33987053
HLI	rs33987053
Exac	rs33987053
Gnomad	rs33987053
Varsome	rs33987053
LitVar	rs33987053
Map	rs33987053
PheGenI	rs33987053
Biobank	rs33987053
1000 genomes	rs33987053
hgdp	rs33987053
ensembl	rs33987053
geneview	rs33987053
scholar	rs33987053
google	rs33987053
pharmgkb	rs33987053
gwascentral	rs33987053
openSNP	rs33987053
23andMe	rs33987053
SNPshot	rs33987053
SNPdbe	rs33987053
MSV3d	rs33987053
GWAS Ctlg	rs33987053

Max Magnitude

3

OMIM	141800
Desc
Variant	0110
Related	also

OMIM	141800
Desc
Variant	0113
Related	also

OMIM	141850
Desc
Variant	0021
Related	also

ClinVar
Risk	rs33987053(A;A) rs33987053(C;C) rs33987053(T;T)
Alt	rs33987053(A;A) rs33987053(C;C) rs33987053(T;T)
Reference	Rs33987053(G;G)
Significance	Pathogenic
Disease	Alpha Thalassemia
Variation	info
Gene	HBA2
CLNDBN	alpha Thalassemia
Reversed	0
HGVS	NC_000016.9:g.223519G>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016930.26,

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

[PMID 3597771] Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).