rs33987957

Orientation

minus

Stabilized

minus

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

Make rs33987957(A;T)

Make rs33987957(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225677

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33987957
dbSNP (classic)	rs33987957
ClinGen	rs33987957
ebi	rs33987957
HLI	rs33987957
Exac	rs33987957
Gnomad	rs33987957
Varsome	rs33987957
LitVar	rs33987957
Map	rs33987957
PheGenI	rs33987957
Biobank	rs33987957
1000 genomes	rs33987957
hgdp	rs33987957
ensembl	rs33987957
geneview	rs33987957
scholar	rs33987957
google	rs33987957
pharmgkb	rs33987957
gwascentral	rs33987957
openSNP	rs33987957
23andMe	rs33987957
SNPshot	rs33987957
SNPdbe	rs33987957
MSV3d	rs33987957
GWAS Ctlg	rs33987957

Max Magnitude

0

OMIM	141900
Desc
Variant	0020
Related	also

OMIM	141900
Desc
Variant	0412
Related	also

OMIM	141900
Desc
Variant	0445
Related	also

ClinVar
Risk	rs33987957(C;C) rs33987957(G;G) rs33987957(T;T)
Alt	rs33987957(C;C) rs33987957(G;G) rs33987957(T;T)
Reference	Rs33987957(A;A)
Significance	Other
Disease	HEMOGLOBIN BEOGRAD HEMOGLOBIN D (CAMPERDOWN) HEMOGLOBIN ST. FRANCIS HEMOGLOBIN D (NEATH)
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN BEOGRAD HEMOGLOBIN D (CAMPERDOWN) HEMOGLOBIN ST. FRANCIS HEMOGLOBIN D (NEATH)
Reversed	1
HGVS	NC_000011.9:g.5246907T>A; NC_000011.9:g.5246907T>C; NC_000011.9:g.5246907T>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016264.3, RCV000016265.3, RCV000016763.2, RCV000016799.3,

[PMID 1917532] Hb St. Francis [beta 121(GH4)Glu----Gly]: a new mutation at the same site as Hb D-Los Angeles.

[PMID 558572] A new hybrid haemoglobin: haemoglobin Strumica/Beograd occurring in an individual with four haemoglobins.

[PMID 809962] Hemoglobin Beograd (alpha2beta2 121 Glu leads to Val) interacting with beta-thalassemia.

[PMID 4761994] Hemoglobin Beograd or alpha 2 beta 2 121 Glu-Val (GH4).

[PMID 6480364] Hb Beograd-beta zero thalassemia in a Turkish family from Yugoslavia.

[PMID 8330979] Hb D-Neath or beta 121 (GH4) Glu-->Ala: a new member of the Hb D family.