rs33915112

minus

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

Make rs33915112(A;C)

Make rs33915112(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226942

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33915112
dbSNP (classic)	rs33915112
ClinGen	rs33915112
ebi	rs33915112
HLI	rs33915112
Exac	rs33915112
Gnomad	rs33915112
Varsome	rs33915112
LitVar	rs33915112
Map	rs33915112
PheGenI	rs33915112
Biobank	rs33915112
1000 genomes	rs33915112
hgdp	rs33915112
ensembl	rs33915112
geneview	rs33915112
scholar	rs33915112
google	rs33915112
pharmgkb	rs33915112
gwascentral	rs33915112
openSNP	rs33915112
23andMe	rs33915112
SNPshot	rs33915112
SNPdbe	rs33915112
MSV3d	rs33915112
GWAS Ctlg	rs33915112

Max Magnitude

0

OMIM	141900
Desc
Variant	0104
Related	also

OMIM	141900
Desc
Variant	0466
Related	also

OMIM	141900
Desc
Variant	0525
Related	also

ClinVar
Risk	rs33915112(C;C) rs33915112(G;G) rs33915112(T;T)
Alt	rs33915112(C;C) rs33915112(G;G) rs33915112(T;T)
Reference	Rs33915112(A;A)
Significance	Other
Disease	HEMOGLOBIN HENRI MONDOR Hb aubenas HEMOGLOBIN TRIPOLI
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN HENRI MONDOR Hb aubenas HEMOGLOBIN TRIPOLI
Reversed	1
HGVS	NC_000011.9:g.5248172T>A; NC_000011.9:g.5248172T>C; NC_000011.9:g.5248172T>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016377.3, RCV000016820.26, RCV000016881.2,

[PMID 1001469] Hb Henri Mondor: beta26 (B8) Glu leads to Val: a variant with a substitution localized at the same position as that of HbE beta26 Glu leads to Lys.

[PMID 8811314] Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E.

[PMID 15481887] Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser].