rs33971048

Orientation

minus

Stabilized

minus

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

Make rs33971048(A;T)

Make rs33971048(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226593

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33971048
dbSNP (classic)	rs33971048
ClinGen	rs33971048
ebi	rs33971048
HLI	rs33971048
Exac	rs33971048
Gnomad	rs33971048
Varsome	rs33971048
LitVar	rs33971048
Map	rs33971048
PheGenI	rs33971048
Biobank	rs33971048
1000 genomes	rs33971048
hgdp	rs33971048
ensembl	rs33971048
geneview	rs33971048
scholar	rs33971048
google	rs33971048
pharmgkb	rs33971048
gwascentral	rs33971048
openSNP	rs33971048
23andMe	rs33971048
SNPshot	rs33971048
SNPdbe	rs33971048
MSV3d	rs33971048
GWAS Ctlg	rs33971048

Max Magnitude

0

OMIM	141900
Desc
Variant	0046
Related	also

OMIM	141900
Desc
Variant	0114
Related	also

OMIM	141900
Desc
Variant	0230
Related	also

ClinVar
Risk	rs33971048(C;C) rs33971048(G;G) rs33971048(T;T)
Alt	rs33971048(C;C) rs33971048(G;G) rs33971048(T;T)
Reference	Rs33971048(A;A)
Significance	Other
Disease	HEMOGLOBIN CHEMILLY HEMOGLOBIN HOTEL-DIEU HEMOGLOBIN RADCLIFFE
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN CHEMILLY HEMOGLOBIN HOTEL-DIEU HEMOGLOBIN RADCLIFFE
Reversed	1
HGVS	NC_000011.9:g.5247823T>A; NC_000011.9:g.5247823T>C; NC_000011.9:g.5247823T>G
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016297.2, RCV000016388.2, RCV000016555.3,

[PMID 857849] Haemoglobin Radcliffe (alpha2beta299(Gi)Ala): a high oxygen-affinity variant causing familial polycythaemia.

[PMID 7204092] Hemoglobin Hotel-Dieu beta 99 Asp replaced by Gly (g1). A new abnormal hemoglobin with high oxygen affinity.

[PMID 9787331] Characterization of hemoglobin Hotel Dieu in a Puerto Rican adolescent.

[PMID 6692925] A new hemoglobin variant altering the alpha 1 beta 2 contact: Hb Chemilly alpha 2 beta 2 99(G1)Asp leads to Val.