rs33967755

Orientation

minus

Stabilized

minus

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

Make rs33967755(A;T)

Make rs33967755(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226671

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33967755
dbSNP (classic)	rs33967755
ClinGen	rs33967755
ebi	rs33967755
HLI	rs33967755
Exac	rs33967755
Gnomad	rs33967755
Varsome	rs33967755
LitVar	rs33967755
Map	rs33967755
PheGenI	rs33967755
Biobank	rs33967755
1000 genomes	rs33967755
hgdp	rs33967755
ensembl	rs33967755
geneview	rs33967755
scholar	rs33967755
google	rs33967755
pharmgkb	rs33967755
gwascentral	rs33967755
openSNP	rs33967755
23andMe	rs33967755
SNPshot	rs33967755
SNPdbe	rs33967755
MSV3d	rs33967755
GWAS Ctlg	rs33967755

Max Magnitude

0

OMIM	141900
Desc
Variant	0183
Related	also

OMIM	141900
Desc
Variant	0283
Related	also

ClinVar
Risk	rs33967755(G;G) rs33967755(T;T)
Alt	rs33967755(G;G) rs33967755(T;T)
Reference	Rs33967755(A;A)
Significance	Other
Disease	HEMOGLOBIN MOBILE HEMOGLOBIN TILBURG
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN MOBILE HEMOGLOBIN TILBURG
Reversed	1
HGVS	NC_000011.9:g.5247901T>A; NC_000011.9:g.5247901T>C
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016499.3, RCV000016625.2,

[PMID 1018330] Hemoglobin Vancouver [alpha2beta2(73)(E17) Asp replaced by Tyr]: its structure and function.

[PMID 1180880] Hb Mobile [alpha2beta2 73(E17)Asp replaced by Val]: a new variant.

[PMID 3191145] Hemoglobin Tilburg: alpha 2-beta 2 73 (E 17) Asp----Gly. A new hemoglobin with reduced oxygen affinity.