rs63750837

Orientation

minus

Stabilized

minus

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

Make rs63750837(-;-)

Make rs63750837(-;ACG)

Make rs63750837(ACG;ACG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226597

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63750837
dbSNP (classic)	rs63750837
ClinGen	rs63750837
ebi	rs63750837
HLI	rs63750837
Exac	rs63750837
Gnomad	rs63750837
Varsome	rs63750837
LitVar	rs63750837
Map	rs63750837
PheGenI	rs63750837
Biobank	rs63750837
1000 genomes	rs63750837
hgdp	rs63750837
ensembl	rs63750837
geneview	rs63750837
scholar	rs63750837
google	rs63750837
pharmgkb	rs63750837
gwascentral	rs63750837
openSNP	rs63750837
23andMe	rs63750837
SNPshot	rs63750837
SNPdbe	rs63750837
MSV3d	rs63750837
GWAS Ctlg	rs63750837

Max Magnitude

0

OMIM	141900
Desc
Variant	0390
Related	also

ClinVar
Risk	rs63750837(-;-)
Alt	rs63750837(-;-)
Reference	rs63750837(ACG;ACG)
Significance	Other
Disease	HEMOGLOBIN GALICIA
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN GALICIA
Reversed	1
HGVS	NC_000011.9:g.5247827_5247829delCGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016737.2,

[PMID 2158827] Hemoglobin Birmingham and hemoglobin Galicia: two unstable beta chain variants characterized by small deletions and insertions.