rs63750654

Orientation

minus

Stabilized

minus

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

Make rs63750654(C;C)

Make rs63750654(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5254956

Gene

HBG2

is a	snp
is	mentioned by
dbSNP	rs63750654
dbSNP (classic)	rs63750654
ClinGen	rs63750654
ebi	rs63750654
HLI	rs63750654
Exac	rs63750654
Gnomad	rs63750654
Varsome	rs63750654
LitVar	rs63750654
Map	rs63750654
PheGenI	rs63750654
Biobank	rs63750654
1000 genomes	rs63750654
hgdp	rs63750654
ensembl	rs63750654
geneview	rs63750654
scholar	rs63750654
google	rs63750654
pharmgkb	rs63750654
gwascentral	rs63750654
openSNP	rs63750654
23andMe	rs63750654
SNPshot	rs63750654
SNPdbe	rs63750654
MSV3d	rs63750654
GWAS Ctlg	rs63750654

Max Magnitude

0

OMIM	142250
Desc
Variant	0027
Related	also

ClinVar
Risk	rs63750654(C;C)
Alt	rs63750654(C;C)
Reference	Rs63750654(T;T)
Significance	Pathogenic
Disease	Fetal hemoglobin quantitative trait locus 1
Variation	info
Gene	HBG2
CLNDBN	Fetal hemoglobin quantitative trait locus 1
Reversed	1
HGVS	NC_000011.9:g.5276186A>G
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016123.26,

[PMID 1246351] Hereditary persistence of foetal haemoglobin with beta-chain synthesis in cis position (Ggamma-beta+-HPFH) in a negro family.