rs33945705

minus

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

Make rs33945705(A;A)

Make rs33945705(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226672

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33945705
dbSNP (classic)	rs33945705
ClinGen	rs33945705
ebi	rs33945705
HLI	rs33945705
Exac	rs33945705
Gnomad	rs33945705
Varsome	rs33945705
LitVar	rs33945705
Map	rs33945705
PheGenI	rs33945705
Biobank	rs33945705
1000 genomes	rs33945705
hgdp	rs33945705
ensembl	rs33945705
geneview	rs33945705
scholar	rs33945705
google	rs33945705
pharmgkb	rs33945705
gwascentral	rs33945705
openSNP	rs33945705
23andMe	rs33945705
SNPshot	rs33945705
SNPdbe	rs33945705
MSV3d	rs33945705
GWAS Ctlg	rs33945705

Max Magnitude

0

OMIM	141900
Desc
Variant	0039
Related	also

OMIM	141900
Desc
Variant	0153
Related	also

OMIM	141900
Desc
Variant	0291
Related	also

ClinVar
Risk	rs33945705(A;A) rs33945705(T;T)
Alt	rs33945705(A;A) rs33945705(T;T)
Reference	Rs33945705(G;G)
Significance	Other
Disease	HEMOGLOBIN VANCOUVER HEMOGLOBIN ZIGUINCHOR HEMOGLOBIN KORLE-BU
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN VANCOUVER HEMOGLOBIN ZIGUINCHOR HEMOGLOBIN KORLE-BU
Reversed	1
HGVS	NC_000011.9:g.5247902C>A; NC_000011.9:g.5247902C>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016634.2, RCV000016286.4, RCV000016449.2,

[PMID 640852] Clinical and hematological studies in a family with hemoglobin Vancouver.

[PMID 1018330] Hemoglobin Vancouver [alpha2beta2(73)(E17) Asp replaced by Tyr]: its structure and function.

[PMID 5722880 ] Haemoglobin Korle-Bu (beta 73 aspartic acid replaced by asparagine) showing one of the two amino acid substitutions of haemoglobin C Harlem.

[PMID 7691242] Compound heterozygosity for hemoglobin C and Korle-Bu: moderate microcytic hemolytic anemia and acceleration of crystal formation [corrected].