rs41530750

Orientation

plus

Stabilized

plus

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

Make rs41530750(G;T)

Make rs41530750(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

176800

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs41530750
dbSNP (classic)	rs41530750
ClinGen	rs41530750
ebi	rs41530750
HLI	rs41530750
Exac	rs41530750
Gnomad	rs41530750
Varsome	rs41530750
LitVar	rs41530750
Map	rs41530750
PheGenI	rs41530750
Biobank	rs41530750
1000 genomes	rs41530750
hgdp	rs41530750
ensembl	rs41530750
geneview	rs41530750
scholar	rs41530750
google	rs41530750
pharmgkb	rs41530750
gwascentral	rs41530750
openSNP	rs41530750
23andMe	rs41530750
SNPshot	rs41530750
SNPdbe	rs41530750
MSV3d	rs41530750
GWAS Ctlg	rs41530750

Max Magnitude

0

OMIM	141800
Desc
Variant	0051
Related	also

ClinVar
Risk	rs41530750(A;A) rs41530750(C;C) rs41530750(T;T)
Alt	rs41530750(A;A) rs41530750(C;C) rs41530750(T;T)
Reference	Rs41530750(G;G)
Significance	Other
Disease	HEMOGLOBIN HEKINAN
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN HEKINAN
Reversed	0
HGVS	NC_000016.9:g.226799G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017047.2,

[PMID 1983218] Hb Hekinan observed in three Chinese from Macau; identification of the GAG----GAT mutation in the alpha 1-globin gene.

[PMID 2753738] Hemoglobin Hekinan [alpha (2)27(B8)Glu----Asp beta 2] detected in Guyana.

[PMID 3384699] An electrophoretically silent hemoglobin variant, Hb Hekinan [alpha 27(B8)Glu----Asp] found in a Japanese.

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

[PMID 15182057] Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)Glu-->Asp (alpha1)] and alpha-thalassemia in Thailand.