rs56205611

Orientation

minus

Stabilized

minus

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

Make rs56205611(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5248393

Gene

HBG1

is a	snp
is	mentioned by
dbSNP	rs56205611
dbSNP (classic)	rs56205611
ClinGen	rs56205611
ebi	rs56205611
HLI	rs56205611
Exac	rs56205611
Gnomad	rs56205611
Varsome	rs56205611
LitVar	rs56205611
Map	rs56205611
PheGenI	rs56205611
Biobank	rs56205611
1000 genomes	rs56205611
hgdp	rs56205611
ensembl	rs56205611
geneview	rs56205611
scholar	rs56205611
google	rs56205611
pharmgkb	rs56205611
gwascentral	rs56205611
openSNP	rs56205611
23andMe	rs56205611
SNPshot	rs56205611
SNPdbe	rs56205611
MSV3d	rs56205611
GWAS Ctlg	rs56205611

GMAF

0.004132

Max Magnitude

0

OMIM	142200
Desc
Variant	0032
Related	also

ClinVar
Risk	Rs56205611(G;G)
Alt	Rs56205611(G;G)
Reference	Rs56205611(C;C)
Significance	Other
Disease	HEMOGLOBIN F (CHARLOTTE)
Variation	info
Gene	HBG1
CLNDBN	HEMOGLOBIN F (CHARLOTTE)
Reversed	1
HGVS	NC_000011.9:g.5269623G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016180.1,

[PMID 1714434] Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136.