rs33918131

minus

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

Make rs33918131(A;A)

Make rs33918131(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226993

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33918131
dbSNP (classic)	rs33918131
ClinGen	rs33918131
ebi	rs33918131
HLI	rs33918131
Exac	rs33918131
Gnomad	rs33918131
Varsome	rs33918131
LitVar	rs33918131
Map	rs33918131
PheGenI	rs33918131
Biobank	rs33918131
1000 genomes	rs33918131
hgdp	rs33918131
ensembl	rs33918131
geneview	rs33918131
scholar	rs33918131
google	rs33918131
pharmgkb	rs33918131
gwascentral	rs33918131
openSNP	rs33918131
23andMe	rs33918131
SNPshot	rs33918131
SNPdbe	rs33918131
MSV3d	rs33918131
GWAS Ctlg	rs33918131

Max Magnitude

0

OMIM	141900
Desc
Variant	0224
Related	also

OMIM	141900
Desc
Variant	0502
Related	also

OMIM	141900
Desc
Variant	0534
Related	also

ClinVar
Risk	rs33918131(A;A) rs33918131(G;G)
Alt	rs33918131(A;A) rs33918131(G;G)
Reference	Rs33918131(C;C)
Significance	Other
Disease	HEMOGLOBIN PORTO ALEGRE HEMOGLOBIN D (AGRI) HEMOGLOBIN BREM-SUR-MER
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN PORTO ALEGRE HEMOGLOBIN D (AGRI) HEMOGLOBIN BREM-SUR-MER
Reversed	1
HGVS	NC_000011.9:g.5248223G>C; NC_000011.9:g.5248223G>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016556.3, RCV000016858.2, RCV000016886.2,

[PMID 4824922] Functional properties of hemoglobin Porto Alegre (alpha2A beta2 9Ser leads to Cys) and the reactivity of its extra cysteinyl residue.

[PMID 6048124] Polymerization of hemoglobins of mouse and man: structural basis.

[PMID 7928381] Association of Hb Santa Ana [alpha 2 beta (2)88(F4)Leu- > Pro] and Hb Porto Alegre [alpha 2 beta (2)9(A6)Ser- > Cys] in a Brazilian female.

[PMID 8294204] Hb Porto Alegre or alpha 2 beta 29(A6)Ser->Cys in unrelated families of the Canary Islands.

[PMID 11742129 ] Hemoglobin Porto Alegre forms a tetramer of tetramers superstructure.

[PMID 15768558] Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)].