rs63750294

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs63750294(C;C)

Make rs63750294(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

172967

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs63750294
dbSNP (classic)	rs63750294
ClinGen	rs63750294
ebi	rs63750294
HLI	rs63750294
Exac	rs63750294
Gnomad	rs63750294
Varsome	rs63750294
LitVar	rs63750294
Map	rs63750294
PheGenI	rs63750294
Biobank	rs63750294
1000 genomes	rs63750294
hgdp	rs63750294
ensembl	rs63750294
geneview	rs63750294
scholar	rs63750294
google	rs63750294
pharmgkb	rs63750294
gwascentral	rs63750294
openSNP	rs63750294
23andMe	rs63750294
SNPshot	rs63750294
SNPdbe	rs63750294
MSV3d	rs63750294
GWAS Ctlg	rs63750294

Max Magnitude

0

OMIM	141800
Desc
Variant	0049
Related	also

ClinVar
Risk	rs63750294(C;C)
Alt	rs63750294(C;C)
Reference	Rs63750294(G;G)
Significance	Untested
Disease
Variation	info
Gene	HBA2
CLNDBN
Reversed	0
HGVS	NC_000016.9:g.222966G>C
CLNSRC
CLNACC

[PMID 852596] Haemoglobin Handsworth alpha 18 (A16) glycine leads to arginne.

[PMID 4030381] Hemoglobin Handsworth or alpha2 18(A16)Gly----Arg beta2 in a Saudi newborn.

[PMID 7216818] Hemoglobin Handsworth (gamma 18 (A16) Gly leads to Arg) in a Chinese.