rs33961886

Orientation

minus

Stabilized

minus

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

Make rs33961886(A;A)

Make rs33961886(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226735

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33961886
dbSNP (classic)	rs33961886
ClinGen	rs33961886
ebi	rs33961886
HLI	rs33961886
Exac	rs33961886
Gnomad	rs33961886
Varsome	rs33961886
LitVar	rs33961886
Map	rs33961886
PheGenI	rs33961886
Biobank	rs33961886
1000 genomes	rs33961886
hgdp	rs33961886
ensembl	rs33961886
geneview	rs33961886
scholar	rs33961886
google	rs33961886
pharmgkb	rs33961886
gwascentral	rs33961886
openSNP	rs33961886
23andMe	rs33961886
SNPshot	rs33961886
SNPdbe	rs33961886
MSV3d	rs33961886
GWAS Ctlg	rs33961886

Max Magnitude

0

OMIM	141900
Desc
Variant	0212
Related	also

OMIM	141900
Desc
Variant	0272
Related	also

OMIM	141900
Desc
Variant	0408
Related	also

ClinVar
Risk	rs33961886(A;A) rs33961886(C;C) rs33961886(T;T)
Alt	rs33961886(A;A) rs33961886(C;C) rs33961886(T;T)
Reference	Rs33961886(G;G)
Significance	Other
Disease	HEMOGLOBIN SUMMER HILL not specified HEMOGLOBIN GRENOBLE Beta Thalassemia
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN SUMMER HILL not specified HEMOGLOBIN GRENOBLE beta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5247965C>G; NC_000011.9:g.5247965C>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016613.2, RCV000016537.3, RCV000016759.2, RCV000029964.2,

[PMID 640855] Hemoglobin Osu-Christiansborg (beta52 (D3) Aspyield Asn) in an Iranian family.

[PMID 5097135] Haemoglobin Osu-Christiansborg: a new beta-chain variant of haemoglobin A ( beta52 (D3) aspartic acid leads to asparagine) in combination with haemoglobin S.

[PMID 10335988] Haplotype analysis of two new, independent cases of Hb Osu-Christiansborg.

[PMID 15008267] Hb Osu-Christiansborg [beta52(D3)Asp --> Asn]: a de novo mutation in Brazil.

[PMID 16178917] Falsely high glycated haemoglobin [HbA1C] because of haemoglobin OSU-Christiansborg.

[PMID 18932067] Carrier screening and prenatal diagnosis of hemoglobinopathies. A study of indigenous and immigrant couples in northern Greece, over the last 5 years. [PMID 6629828] Hb Summer Hill or alpha 2 beta 2(52)(D3)Asp replaced by His in a Turkish family from Cyprus.