rs41525149

Orientation

plus

Stabilized

plus

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

Make rs41525149(A;A)

Make rs41525149(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

172975

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs41525149
dbSNP (classic)	rs41525149
ClinGen	rs41525149
ebi	rs41525149
HLI	rs41525149
Exac	rs41525149
Gnomad	rs41525149
Varsome	rs41525149
LitVar	rs41525149
Map	rs41525149
PheGenI	rs41525149
Biobank	rs41525149
1000 genomes	rs41525149
hgdp	rs41525149
ensembl	rs41525149
geneview	rs41525149
scholar	rs41525149
google	rs41525149
pharmgkb	rs41525149
gwascentral	rs41525149
openSNP	rs41525149
23andMe	rs41525149
SNPshot	rs41525149
SNPdbe	rs41525149
MSV3d	rs41525149
GWAS Ctlg	rs41525149

Max Magnitude

0

OMIM	141800
Desc
Variant	0088
Related	also

ClinVar
Risk	rs41525149(A;A)
Alt	rs41525149(A;A)
Reference	Rs41525149(C;C)
Significance	Other
Disease	HEMOGLOBIN LE LAMENTIN
Variation	info
Gene	HBA2
CLNDBN	HEMOGLOBIN LE LAMENTIN
Reversed	0
HGVS	NC_000016.9:g.222974C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017094.1,

[PMID 3384713] Hb Le Lamentin or alpha 2 20(B1)His----GLN beta 2 found in a Spanish family.

[PMID 6671903] Hb Le Lamentin [alpha 20 (B 1) His----Gln] in Japan: structure, function and biosynthesis.

[PMID 7128817] A new silent hemoglobin variant in a black family from French West Indies, hemoglobin Le Lamentin alpha 20 His replaced by Gln.

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

[PMID 9771447] Haemoglobin Le Lamentin (alpha 20 (B1) His-->Gln) in a British family: identification by electrospray mass spectrometry.

[PMID 11729221] Increasing recognition of haemoglobin Le Lamentin.