rs33994623

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in complete genomics
(TG;TG)	0	common in clinvar

Make rs33994623(A;A)

Make rs33994623(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226780

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33994623
dbSNP (classic)	rs33994623
ClinGen	rs33994623
ebi	rs33994623
HLI	rs33994623
Exac	rs33994623
Gnomad	rs33994623
Varsome	rs33994623
LitVar	rs33994623
Map	rs33994623
PheGenI	rs33994623
Biobank	rs33994623
1000 genomes	rs33994623
hgdp	rs33994623
ensembl	rs33994623
geneview	rs33994623
scholar	rs33994623
google	rs33994623
pharmgkb	rs33994623
gwascentral	rs33994623
openSNP	rs33994623
23andMe	rs33994623
SNPshot	rs33994623
SNPdbe	rs33994623
MSV3d	rs33994623
GWAS Ctlg	rs33994623

Merged from

Rs121909827

Max Magnitude

0

OMIM	141900
Desc
Variant	0241
Related	also

OMIM	141900
Desc
Variant	0440
Related	also

ClinVar
Risk	rs33994623(A;A) rs33994623(C;C) rs33994623(G;G)
Alt	rs33994623(A;A) rs33994623(C;C) rs33994623(G;G)
Reference	Rs33994623(T;T)
Significance	Other
Disease	HEMOGLOBIN HOWICK HEMOGLOBIN ROTHSCHILD
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN HOWICK HEMOGLOBIN ROTHSCHILD
Reversed	1
HGVS	NC_000011.9:g.5248010A>C; NC_000011.9:g.5248010A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016794.2, RCV000016571.2,

[PMID 913596] Structural and functional studies of Hb Rothschild beta (C3) Trp replaced by Arg. A new variant of the alpha1beta2 contact.

[PMID 7068435] Hb Rothschild (beta 37 (C2) Trp leads to Arg): clinical studies.

[PMID 7391018] Refolding defects in hemoglobin Rothschild.

[PMID 8144352] Hb Howick [beta 37(C3)Trp-->Gly]: a new high oxygen affinity variant of the alpha 1 beta 2 contact.