rs33966487

Orientation

minus

Stabilized

minus

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

Make rs33966487(A;A)

Make rs33966487(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226588

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33966487
dbSNP (classic)	rs33966487
ClinGen	rs33966487
ebi	rs33966487
HLI	rs33966487
Exac	rs33966487
Gnomad	rs33966487
Varsome	rs33966487
LitVar	rs33966487
Map	rs33966487
PheGenI	rs33966487
Biobank	rs33966487
1000 genomes	rs33966487
hgdp	rs33966487
ensembl	rs33966487
geneview	rs33966487
scholar	rs33966487
google	rs33966487
pharmgkb	rs33966487
gwascentral	rs33966487
openSNP	rs33966487
23andMe	rs33966487
SNPshot	rs33966487
SNPdbe	rs33966487
MSV3d	rs33966487
GWAS Ctlg	rs33966487

Max Magnitude

0

OMIM	141900
Desc
Variant	0031
Related	also

OMIM	141900
Desc
Variant	0242
Related	also

ClinVar
Risk	rs33966487(A;A) rs33966487(C;C)
Alt	rs33966487(A;A) rs33966487(C;C)
Reference	Rs33966487(G;G)
Significance	Other
Disease	HEMOGLOBIN RUSH HEMOGLOBIN BRITISH COLUMBIA
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN RUSH HEMOGLOBIN BRITISH COLUMBIA
Reversed	1
HGVS	NC_000011.9:g.5247818C>G; NC_000011.9:g.5247818C>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016572.2, RCV000016274.2,

[PMID 3997804] Involvement of Glu G3(101)beta in the function of hemoglobin. Comparative O2 equilibrium studies of human mutant hemoglobins.

[PMID 4129558] Hemoglobin Rush (beta 101 (g3) glutamine): a new unstable hemoglobin causing mild hemolytic anemia.