rs33969400

Orientation

minus

Stabilized

minus

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

Make rs33969400(A;G)

Make rs33969400(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226714

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33969400
dbSNP (classic)	rs33969400
ClinGen	rs33969400
ebi	rs33969400
HLI	rs33969400
Exac	rs33969400
Gnomad	rs33969400
Varsome	rs33969400
LitVar	rs33969400
Map	rs33969400
PheGenI	rs33969400
Biobank	rs33969400
1000 genomes	rs33969400
hgdp	rs33969400
ensembl	rs33969400
geneview	rs33969400
scholar	rs33969400
google	rs33969400
pharmgkb	rs33969400
gwascentral	rs33969400
openSNP	rs33969400
23andMe	rs33969400
SNPshot	rs33969400
SNPdbe	rs33969400
MSV3d	rs33969400
GWAS Ctlg	rs33969400

Merged from

Rs121909810

Max Magnitude

0

OMIM	141900
Desc
Variant	0115
Related	also

ClinVar
Risk	rs33969400(G;G) rs33969400(T;T)
Alt	rs33969400(G;G) rs33969400(T;T)
Reference	Rs33969400(A;A)
Significance	Other
Disease	HEMOGLOBIN I (HIGH WYCOMBE)
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN I (HIGH WYCOMBE)
Reversed	1
HGVS	NC_000011.9:g.5247944T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016389.2,

[PMID 3583766] Hemoglobin I High Wycombe in an Australian family.

[PMID 10870888] Hb I-high Wycombe [beta59(E3)Lys-->Glu]: the first instance in Japan.

[PMID 12908806] Identification of a new beta-thalassemia nonsense mutation [codon 59 (AAG-->TAG)].