rs33995148

Orientation

minus

Stabilized

minus

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

Make rs33995148(A;G)

Make rs33995148(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226708

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33995148
dbSNP (classic)	rs33995148
ClinGen	rs33995148
ebi	rs33995148
HLI	rs33995148
Exac	rs33995148
Gnomad	rs33995148
Varsome	rs33995148
LitVar	rs33995148
Map	rs33995148
PheGenI	rs33995148
Biobank	rs33995148
1000 genomes	rs33995148
hgdp	rs33995148
ensembl	rs33995148
geneview	rs33995148
scholar	rs33995148
google	rs33995148
pharmgkb	rs33995148
gwascentral	rs33995148
openSNP	rs33995148
23andMe	rs33995148
SNPshot	rs33995148
SNPdbe	rs33995148
MSV3d	rs33995148
GWAS Ctlg	rs33995148

Max Magnitude

0

OMIM	141900
Desc
Variant	0190
Related	also

OMIM	141900
Desc
Variant	0317
Related	also

OMIM	141900
Desc
Variant	0514
Related	also

ClinVar
Risk	rs33995148(C;C) rs33995148(G;G) rs33995148(T;T)
Alt	rs33995148(C;C) rs33995148(G;G) rs33995148(T;T)
Reference	Rs33995148(A;A)
Significance	Other
Disease	beta^0^ Thalassemia HEMOGLOBIN N (SEATTLE) HEMOGLOBIN POCOS DE CALDAS
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia HEMOGLOBIN N (SEATTLE) HEMOGLOBIN POCOS DE CALDAS
Reversed	1
HGVS	NC_000011.9:g.5247938T>A; NC_000011.9:g.5247938T>C; NC_000011.9:g.5247938T>G
CLNSRC	OMIM Allelic Variant HBVAR UniProtKB (protein)
CLNACC	RCV000016661.23, RCV000016510.2, RCV000016870.2,

[PMID 5637049] Structural characterization of hemoglobin-N-Seattle.

[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.

[PMID 12484633] A novel beta-globin variant: Hb Pocos de Caldas [beta 61(E5)Lys-->Gln].