rs33990858

Orientation

minus

Stabilized

minus

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

Make rs33990858(A;A)

Make rs33990858(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226654

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33990858
dbSNP (classic)	rs33990858
ClinGen	rs33990858
ebi	rs33990858
HLI	rs33990858
Exac	rs33990858
Gnomad	rs33990858
Varsome	rs33990858
LitVar	rs33990858
Map	rs33990858
PheGenI	rs33990858
Biobank	rs33990858
1000 genomes	rs33990858
hgdp	rs33990858
ensembl	rs33990858
geneview	rs33990858
scholar	rs33990858
google	rs33990858
pharmgkb	rs33990858
gwascentral	rs33990858
openSNP	rs33990858
23andMe	rs33990858
SNPshot	rs33990858
SNPdbe	rs33990858
MSV3d	rs33990858
GWAS Ctlg	rs33990858

Max Magnitude

0

OMIM	141900
Desc
Variant	0079
Related	also

OMIM	141900
Desc
Variant	0281
Related	also

OMIM	141900
Desc
Variant	0433
Related	also

OMIM	141900
Desc
Variant	0453
Related	also

ClinVar
Risk	rs33990858(A;A) rs33990858(C;C) rs33990858(T;T)
Alt	rs33990858(A;A) rs33990858(C;C) rs33990858(T;T)
Reference	Rs33990858(G;G)
Significance	Other
Disease	HEMOGLOBIN TAMPA HEMOGLOBIN TIGRAYE HEMOGLOBIN G (ACCRA) HEMOGLOBIN YAIZU
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN TAMPA HEMOGLOBIN TIGRAYE HEMOGLOBIN G (ACCRA) HEMOGLOBIN YAIZU
Reversed	1
HGVS	NC_000011.9:g.5247884C>A; NC_000011.9:g.5247884C>G; NC_000011.9:g.5247884C>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016623.2, RCV000016786.2, RCV000016341.3, RCV000030906.2,

[PMID 7378467] Hemoglobin Tampa:beta 79 (EF3) aspartic acid replaced by tyrosine.

[PMID 8330977] Hb Tigraye or alpha 2 beta (2)79(EF3)Asp-->His(GAC-->CAC): a hemoglobin variant with increased oxygen affinity observed in an Ethiopian male.

[PMID 11570729] Hb Tigraye [beta79(EF3)Asp --> His] in a Caucasian family from Sardinia.

[PMID 7615399] Hb Yaizu [beta 79(EF3)Asp-->Asn]: a new beta chain variant found in a Japanese female.