rs33931779

Orientation

minus

Stabilized

minus

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

Make rs33931779(C;C)

Make rs33931779(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226710

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33931779
dbSNP (classic)	rs33931779
ClinGen	rs33931779
ebi	rs33931779
HLI	rs33931779
Exac	rs33931779
Gnomad	rs33931779
Varsome	rs33931779
LitVar	rs33931779
Map	rs33931779
PheGenI	rs33931779
Biobank	rs33931779
1000 genomes	rs33931779
hgdp	rs33931779
ensembl	rs33931779
geneview	rs33931779
scholar	rs33931779
google	rs33931779
pharmgkb	rs33931779
gwascentral	rs33931779
openSNP	rs33931779
23andMe	rs33931779
SNPshot	rs33931779
SNPdbe	rs33931779
MSV3d	rs33931779
GWAS Ctlg	rs33931779

Max Magnitude

0

OMIM	141900
Desc
Variant	0053
Related	also

OMIM	141900
Desc
Variant	0321
Related	also

ClinVar
Risk	rs33931779(A;A) rs33931779(C;C)
Alt	rs33931779(A;A) rs33931779(C;C)
Reference	Rs33931779(T;T)
Significance	Other
Disease	HEMOGLOBIN COLLINGWOOD Beta-plus-thalassemia HEMOGLOBIN CAGLIARI
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN COLLINGWOOD Beta-plus-thalassemia HEMOGLOBIN CAGLIARI
Reversed	1
HGVS	NC_000011.9:g.5247940A>G; NC_000011.9:g.5247940A>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016304.2, RCV000016666.27, RCV000016667.3,

[PMID 6421773] Hemoglobin Collingwood beta 60 (E4) Val replaced by Ala. A new unstable hemoglobin.

[PMID 1985702] Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy.