rs33950093

minus

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

Make rs33950093(A;A)

Make rs33950093(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226958

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33950093
dbSNP (classic)	rs33950093
ClinGen	rs33950093
ebi	rs33950093
HLI	rs33950093
Exac	rs33950093
Gnomad	rs33950093
Varsome	rs33950093
LitVar	rs33950093
Map	rs33950093
PheGenI	rs33950093
Biobank	rs33950093
1000 genomes	rs33950093
hgdp	rs33950093
ensembl	rs33950093
geneview	rs33950093
scholar	rs33950093
google	rs33950093
pharmgkb	rs33950093
gwascentral	rs33950093
openSNP	rs33950093
23andMe	rs33950093
SNPshot	rs33950093
SNPdbe	rs33950093
MSV3d	rs33950093
GWAS Ctlg	rs33950093

Max Magnitude

0

OMIM	141900
Desc
Variant	0052
Related	also

OMIM	141900
Desc
Variant	0309
Related	also

OMIM	141900
Desc
Variant	0431
Related	also

ClinVar
Risk	rs33950093(A;A) rs33950093(C;C) rs33950093(T;T)
Alt	rs33950093(A;A) rs33950093(C;C) rs33950093(T;T)
Reference	Rs33950093(G;G)
Significance	Other
Disease	HEMOGLOBIN YUSA HEMOGLOBIN KARLSKOGA HEMOGLOBIN COCODY
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN YUSA HEMOGLOBIN KARLSKOGA HEMOGLOBIN COCODY
Reversed	1
HGVS	NC_000011.9:g.5248188C>A; NC_000011.9:g.5248188C>G; NC_000011.9:g.5248188C>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016653.3, RCV000016784.3, RCV000016303.3,

[PMID 2384310] Hb Cocody [beta 21(B3)Asp----Asn] and Hb Yusa [beta 21(B3)ASP----TYR] found in Japan.

[PMID 7216815] Hemoglobin Yusa (beta 21 (B3) Asp leads to Tyr), a new abnormal hemoglobin found in Japan.

[PMID 6271242] Application of high--performance liquid chromatography to abnormal hemoglobin studies. Characterization of hemoglobins D in Ivory Coast and description of a new variant hb Cocody (beta 21 (B3) Asp leads to Asn).

[PMID 8330972] Hb Karlskoga or alpha 2 beta (2)21(B3) Asp-->His: a new slow-moving variant found in Sweden.