rs63749927

Orientation

plus

Stabilized

plus

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

Make rs63749927(A;A)

Make rs63749927(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

177344

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs63749927
dbSNP (classic)	rs63749927
ClinGen	rs63749927
ebi	rs63749927
HLI	rs63749927
Exac	rs63749927
Gnomad	rs63749927
Varsome	rs63749927
LitVar	rs63749927
Map	rs63749927
PheGenI	rs63749927
Biobank	rs63749927
1000 genomes	rs63749927
hgdp	rs63749927
ensembl	rs63749927
geneview	rs63749927
scholar	rs63749927
google	rs63749927
pharmgkb	rs63749927
gwascentral	rs63749927
openSNP	rs63749927
23andMe	rs63749927
SNPshot	rs63749927
SNPdbe	rs63749927
MSV3d	rs63749927
GWAS Ctlg	rs63749927

Max Magnitude

0

OMIM	141800
Desc
Variant	0060
Related	also

ClinVar
Risk	rs63749927(A;A)
Alt	rs63749927(A;A)
Reference	Rs63749927(C;C)
Significance	Other
Disease	HEMOGLOBIN J (BIRMINGHAM) HEMOGLOBIN J (MEERUT)
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN J (BIRMINGHAM) HEMOGLOBIN J (MEERUT)
Reversed	0
HGVS	NC_000016.9:g.227343C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017059.2, RCV000017060.2,

[PMID 2737912] Hb J-Meerut [alpha 120(H3)Ala----Glu] found in a Japanese family.

[PMID 4600474] Hemoglobin J Meerut: alpha120 Ala leads to Glu.

[PMID 7713747] A case of HB J-Meerut (or Hb J-Birmingham) [alpha 120(H3)Ala-->Glu].

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