rs63750134

Orientation

plus

Stabilized

plus

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

Make rs63750134(A;A)

Make rs63750134(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

173595

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs63750134
dbSNP (classic)	rs63750134
ClinGen	rs63750134
ebi	rs63750134
HLI	rs63750134
Exac	rs63750134
Gnomad	rs63750134
Varsome	rs63750134
LitVar	rs63750134
Map	rs63750134
PheGenI	rs63750134
Biobank	rs63750134
1000 genomes	rs63750134
hgdp	rs63750134
ensembl	rs63750134
geneview	rs63750134
scholar	rs63750134
google	rs63750134
pharmgkb	rs63750134
gwascentral	rs63750134
openSNP	rs63750134
23andMe	rs63750134
SNPshot	rs63750134
SNPdbe	rs63750134
MSV3d	rs63750134
GWAS Ctlg	rs63750134

Max Magnitude

0

OMIM	141800
Desc
Variant	0062
Related	also

OMIM	141800
Desc
Variant	0064
Related	also

OMIM	141800
Desc
Variant	0109
Related	also

ClinVar
Risk	rs63750134(A;A) rs63750134(G;G) rs63750134(T;T)
Alt	rs63750134(A;A) rs63750134(G;G) rs63750134(T;T)
Reference	Rs63750134(C;C)
Significance	Untested
Disease
Variation	info
Gene	HBA2
CLNDBN
Reversed	0
HGVS	NC_000016.9:g.223594C>A; NC_000016.9:g.223594C>G; NC_000016.9:g.223594C>T
CLNSRC
CLNACC

[PMID 901812] Chemical characterization of a new haemoglobin variant haemoglobin J Cubujuqui (alpha2141(HC3)Arg replaced by Ser beta2).

[PMID 7338473] Hemoglobin Cubujuqui (alpha 141 Arg-Ser): functional consequences of the alteration of the C-terminus of the alpha chain of hemoglobin.

[PMID 640841] Hb J Camaguey alpha 2 141(HC3) Arg replaced by Gly beta 2: a new abnormal human hemoglobin.

[PMID 1787099] Hb J-Camaguey [alpha 141(HC3)Arg----Gly] associated with alpha-thalassemia-1 in an Australian family.

[PMID 6480361] A case of Hb J-Camaguey or alpha 2141(HC3)Arg----Gly beta 2 in a Chinese family.

[PMID 8537233] Detection of Hb J-Camaguey [alpha 141(HC3)Arg-->Gly] in three Spanish families.

[PMID 3973024] A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin.