rs33985847

Orientation

minus

Stabilized

minus

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

Make rs33985847(A;A)

Make rs33985847(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226662

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33985847
dbSNP (classic)	rs33985847
ClinGen	rs33985847
ebi	rs33985847
HLI	rs33985847
Exac	rs33985847
Gnomad	rs33985847
Varsome	rs33985847
LitVar	rs33985847
Map	rs33985847
PheGenI	rs33985847
Biobank	rs33985847
1000 genomes	rs33985847
hgdp	rs33985847
ensembl	rs33985847
geneview	rs33985847
scholar	rs33985847
google	rs33985847
pharmgkb	rs33985847
gwascentral	rs33985847
openSNP	rs33985847
23andMe	rs33985847
SNPshot	rs33985847
SNPdbe	rs33985847
MSV3d	rs33985847
GWAS Ctlg	rs33985847

Merged from

Rs121909811

Max Magnitude

0

OMIM	141900
Desc
Variant	0127
Related	also

ClinVar
Risk	rs33985847(A;A) rs33985847(T;T)
Alt	rs33985847(A;A) rs33985847(T;T)
Reference	Rs33985847(C;C)
Significance	Other
Disease	HEMOGLOBIN J (CHICAGO)
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN J (CHICAGO)
Reversed	1
HGVS	NC_000011.9:g.5247892G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016413.2,

[PMID 163659] Hemoglobin J-Chicago (beta76(E20) Ala yields Asp): a new hemoglobin variant resulting from substitution of an external residue.

[PMID 9494051] A case of Hb J-Chicago [beta 76(E20)Ala-->Asp] in a Spanish family.