rs33933298

Orientation

minus

Stabilized

minus

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

Make rs33933298(A;A)

Make rs33933298(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226597

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33933298
dbSNP (classic)	rs33933298
ClinGen	rs33933298
ebi	rs33933298
HLI	rs33933298
Exac	rs33933298
Gnomad	rs33933298
Varsome	rs33933298
LitVar	rs33933298
Map	rs33933298
PheGenI	rs33933298
Biobank	rs33933298
1000 genomes	rs33933298
hgdp	rs33933298
ensembl	rs33933298
geneview	rs33933298
scholar	rs33933298
google	rs33933298
pharmgkb	rs33933298
gwascentral	rs33933298
openSNP	rs33933298
23andMe	rs33933298
SNPshot	rs33933298
SNPdbe	rs33933298
MSV3d	rs33933298
GWAS Ctlg	rs33933298

Merged from

Rs121909813

Max Magnitude

0

OMIM	141900
Desc
Variant	0151
Related	also

ClinVar
Risk	rs33933298(A;A) rs33933298(T;T)
Alt	rs33933298(A;A) rs33933298(T;T)
Reference	Rs33933298(G;G)
Significance	Other
Disease	Hemoglobinopathy Heinz body anemia HEMOGLOBIN MEDICINE LAKE
Variation	info
Gene	HBB
CLNDBN	Hemoglobinopathy Heinz body anemia HEMOGLOBIN MEDICINE LAKE
Reversed	1
HGVS	NC_000011.9:g.5247827C>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016443.6, RCV000016446.29, RCV000016807.2,

[PMID 2283293] Unstable hemoglobins.

[PMID 5881530] [Hemoglobin Koln disease: familial hypochromic hemolytic anemia with hemoglobin anomaly].

[PMID 5960324] Haemoglobin Koln (beta-98 valine--methionine): an unstable protein causing inclusion-body anaemia.

[PMID 9136923] Thromboembolic complication of splenectomy in unstable hemoglobin disorders: Hb Olmsted, Hb Koln.