rs63751282

plus

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

Make rs63751282(C;C)

Make rs63751282(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

173596

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs63751282
dbSNP (classic)	rs63751282
ClinGen	rs63751282
ebi	rs63751282
HLI	rs63751282
Exac	rs63751282
Gnomad	rs63751282
Varsome	rs63751282
LitVar	rs63751282
Map	rs63751282
PheGenI	rs63751282
Biobank	rs63751282
1000 genomes	rs63751282
hgdp	rs63751282
ensembl	rs63751282
geneview	rs63751282
scholar	rs63751282
google	rs63751282
pharmgkb	rs63751282
gwascentral	rs63751282
openSNP	rs63751282
23andMe	rs63751282
SNPshot	rs63751282
SNPdbe	rs63751282
MSV3d	rs63751282
GWAS Ctlg	rs63751282

Max Magnitude

0

OMIM	141800
Desc
Variant	0087
Related	also

OMIM	141800
Desc
Variant	0135
Related	also

OMIM	141800
Desc
Variant	0144
Related	also

ClinVar
Risk	rs63751282(A;A) rs63751282(C;C) rs63751282(T;T)
Alt	rs63751282(A;A) rs63751282(C;C) rs63751282(T;T)
Reference	Rs63751282(G;G)
Significance	Untested
Disease
Variation	info
Gene	HBA2
CLNDBN
Reversed	0
HGVS	NC_000016.9:g.223595G>A; NC_000016.9:g.223595G>C; NC_000016.9:g.223595G>T
CLNSRC
CLNACC

[PMID 5782115] Two new haemoglobin variants involving proline substitutions.

[PMID 11123] Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant.

[PMID 640857] Hb Suresnes or alpha2 141(HC3) ArgyieldHis beta2 in a black family.

[PMID 7410435] Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site.

[PMID 701083] Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity.