rs33985739

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs33985739(A;A)

Make rs33985739(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225601

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33985739
dbSNP (classic)	rs33985739
ClinGen	rs33985739
ebi	rs33985739
HLI	rs33985739
Exac	rs33985739
Gnomad	rs33985739
Varsome	rs33985739
LitVar	rs33985739
Map	rs33985739
PheGenI	rs33985739
Biobank	rs33985739
1000 genomes	rs33985739
hgdp	rs33985739
ensembl	rs33985739
geneview	rs33985739
scholar	rs33985739
google	rs33985739
pharmgkb	rs33985739
gwascentral	rs33985739
openSNP	rs33985739
23andMe	rs33985739
SNPshot	rs33985739
SNPdbe	rs33985739
MSV3d	rs33985739
GWAS Ctlg	rs33985739

Max Magnitude

0

OMIM	141900
Desc
Variant	0409
Related	also

OMIM	141900
Desc
Variant	0510
Related	also

ClinVar
Risk	rs33985739(A;A) rs33985739(G;G)
Alt	rs33985739(A;A) rs33985739(G;G)
Reference	Rs33985739(C;C)
Significance	Other
Disease	HEMOGLOBIN KODAIRA II HEMOGLOBIN KODAIRA
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN KODAIRA II HEMOGLOBIN KODAIRA
Reversed	1
HGVS	NC_000011.9:g.5246831G>C; NC_000011.9:g.5246831G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016868.2, RCV000016760.2,

[PMID 1634367] Hb Kodaira [beta 146(HC3)His----Gln]: a new beta chain variant with an amino acid substitution at the C-terminus.

[PMID 12144067] Hb Kodaira II: a high oxygen affinity variant with a novel mutation in the beta-globin gene and phenotypic identity to Hb Kodaira.

[PMID 12603092] Hb Kodaira II [beta146(HC3)His --> Gln] detected in Thailand.