rs33922018

Orientation

minus

Stabilized

minus

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

Make rs33922018(A;A)

Make rs33922018(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226698

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33922018
dbSNP (classic)	rs33922018
ClinGen	rs33922018
ebi	rs33922018
HLI	rs33922018
Exac	rs33922018
Gnomad	rs33922018
Varsome	rs33922018
LitVar	rs33922018
Map	rs33922018
PheGenI	rs33922018
Biobank	rs33922018
1000 genomes	rs33922018
hgdp	rs33922018
ensembl	rs33922018
geneview	rs33922018
scholar	rs33922018
google	rs33922018
pharmgkb	rs33922018
gwascentral	rs33922018
openSNP	rs33922018
23andMe	rs33922018
SNPshot	rs33922018
SNPdbe	rs33922018
MSV3d	rs33922018
GWAS Ctlg	rs33922018

Max Magnitude

0

OMIM	141900
Desc
Variant	0126
Related	also

OMIM	141900
Desc
Variant	0512
Related	also

ClinVar
Risk	rs33922018(A;A) rs33922018(C;C)
Alt	rs33922018(A;A) rs33922018(C;C)
Reference	Rs33922018(G;G)
Significance	Other
Disease	HEMOGLOBIN AUBAGNE HEMOGLOBIN J (CALABRIA) HEMOGLOBIN J (COSENZA) HEMOGLOBIN J (BARI)
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN AUBAGNE HEMOGLOBIN J (CALABRIA) HEMOGLOBIN J (COSENZA) HEMOGLOBIN J (BARI)
Reversed	1
HGVS	NC_000011.9:g.5247928C>G; NC_000011.9:g.5247928C>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016866.2, RCV000016410.4, RCV000016411.4, RCV000016412.4,

[PMID 884140] Structural and functional studies of hemoglobin J Cala-bria: beta64 (E8) Gly leads to Asp.

[PMID 12144059] Hb aubagne [beta64(E8)Gly-Ala]: a new unstable beta chain variant found in a French family.