rs41479844

Orientation

plus

Stabilized

plus

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

Make rs41479844(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

173500

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs41479844
dbSNP (classic)	rs41479844
ClinGen	rs41479844
ebi	rs41479844
HLI	rs41479844
Exac	rs41479844
Gnomad	rs41479844
Varsome	rs41479844
LitVar	rs41479844
Map	rs41479844
PheGenI	rs41479844
Biobank	rs41479844
1000 genomes	rs41479844
hgdp	rs41479844
ensembl	rs41479844
geneview	rs41479844
scholar	rs41479844
google	rs41479844
pharmgkb	rs41479844
gwascentral	rs41479844
openSNP	rs41479844
23andMe	rs41479844
SNPshot	rs41479844
SNPdbe	rs41479844
MSV3d	rs41479844
GWAS Ctlg	rs41479844

Max Magnitude

3

OMIM	141850
Desc
Variant	0007
Related	also

ClinVar
Risk	rs41479844(G;G)
Alt	rs41479844(G;G)
Reference	Rs41479844(T;T)
Significance	Other
Disease	HEMOGLOBIN SUAN-DOK
Variation	info
Gene	HBA2
CLNDBN	HEMOGLOBIN SUAN-DOK
Reversed	0
HGVS	NC_000016.9:g.223499T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016899.1,

[PMID 478977] Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia.

[PMID 2384313] Direct demonstration of the HB Suan-Dok mutation in the alpha 2-globin gene by restriction analysis with Sma I.

[PMID 15481883] Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry.