rs33950778

Orientation

minus

Stabilized

minus

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

Make rs33950778(A;C)

Make rs33950778(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225647

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33950778
dbSNP (classic)	rs33950778
ClinGen	rs33950778
ebi	rs33950778
HLI	rs33950778
Exac	rs33950778
Gnomad	rs33950778
Varsome	rs33950778
LitVar	rs33950778
Map	rs33950778
PheGenI	rs33950778
Biobank	rs33950778
1000 genomes	rs33950778
hgdp	rs33950778
ensembl	rs33950778
geneview	rs33950778
scholar	rs33950778
google	rs33950778
pharmgkb	rs33950778
gwascentral	rs33950778
openSNP	rs33950778
23andMe	rs33950778
SNPshot	rs33950778
SNPdbe	rs33950778
MSV3d	rs33950778
GWAS Ctlg	rs33950778

Max Magnitude

0

OMIM	141900
Desc
Variant	0258
Related	also

OMIM	141900
Desc
Variant	0435
Related	also

ClinVar
Risk	rs33950778(C;C) rs33950778(G;G)
Alt	rs33950778(C;C) rs33950778(G;G)
Reference	Rs33950778(A;A)
Significance	Other
Disease	HEMOGLOBIN SARREBOURG HEMOGLOBIN SHANGHAI
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN SARREBOURG HEMOGLOBIN SHANGHAI
Reversed	1
HGVS	NC_000011.9:g.5246877T>C; NC_000011.9:g.5246877T>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016787.2, RCV000016592.2,

[PMID 3676109] A new unstable haemoglobin variant: Hb Shanghai [beta 131(H9)Gln----Pro] found in China.

[PMID 17486501] Hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in a Spanish family.

[PMID 21077765] Hb Sarrebourg [beta131(H9)Gln-->Arg, CAG>CGG] in Turkey.