rs33992775

Orientation

minus

Stabilized

minus

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

Make rs33992775(C;G)

Make rs33992775(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5249767

Gene

HBG1

is a	snp
is	mentioned by
dbSNP	rs33992775
dbSNP (classic)	rs33992775
ClinGen	rs33992775
ebi	rs33992775
HLI	rs33992775
Exac	rs33992775
Gnomad	rs33992775
Varsome	rs33992775
LitVar	rs33992775
Map	rs33992775
PheGenI	rs33992775
Biobank	rs33992775
1000 genomes	rs33992775
hgdp	rs33992775
ensembl	rs33992775
geneview	rs33992775
scholar	rs33992775
google	rs33992775
pharmgkb	rs33992775
gwascentral	rs33992775
openSNP	rs33992775
23andMe	rs33992775
SNPshot	rs33992775
SNPdbe	rs33992775
MSV3d	rs33992775
GWAS Ctlg	rs33992775

Max Magnitude

0

OMIM	142200
Desc
Variant	0005
Related	also

OMIM	142250
Desc
Variant	0008
Related	also

ClinVar
Risk	rs33992775(A;A) rs33992775(G;G)
Alt	rs33992775(A;A) rs33992775(G;G)
Reference	Rs33992775(C;C)
Significance	Other
Disease	HEMOGLOBIN F (CALLUNA)
Variation	info
Gene	HBG1
CLNDBN	HEMOGLOBIN F (CALLUNA)
Reversed	1
HGVS	NC_000011.9:g.5270997G>C
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016149.1,

[PMID 6199326] Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; 136Ala) in a Caucasian baby.

[PMID 5763628] On the chemical abnormality of Hb "Alexandra", a fetal hemoglobin variant.

[PMID 13622677] New variant of human foetal haemoglobin.