rs33991294

Orientation

minus

Stabilized

minus

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

Make rs33991294(C;T)

Make rs33991294(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226660

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33991294
dbSNP (classic)	rs33991294
ClinGen	rs33991294
ebi	rs33991294
HLI	rs33991294
Exac	rs33991294
Gnomad	rs33991294
Varsome	rs33991294
LitVar	rs33991294
Map	rs33991294
PheGenI	rs33991294
Biobank	rs33991294
1000 genomes	rs33991294
hgdp	rs33991294
ensembl	rs33991294
geneview	rs33991294
scholar	rs33991294
google	rs33991294
pharmgkb	rs33991294
gwascentral	rs33991294
openSNP	rs33991294
23andMe	rs33991294
SNPshot	rs33991294
SNPdbe	rs33991294
MSV3d	rs33991294
GWAS Ctlg	rs33991294

Max Magnitude

0

OMIM	141900
Desc
Variant	0078
Related	also

OMIM	141900
Desc
Variant	0131
Related	also

ClinVar
Risk	rs33991294(A;A) rs33991294(G;G) rs33991294(T;T)
Alt	rs33991294(A;A) rs33991294(G;G) rs33991294(T;T)
Reference	Rs33991294(C;C)
Significance	Other
Disease	HEMOGLOBIN FUKUYAMA HEMOGLOBIN J (IRAN)
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN FUKUYAMA HEMOGLOBIN J (IRAN)
Reversed	1
HGVS	NC_000011.9:g.5247890G>A; NC_000011.9:g.5247890G>C
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016340.2, RCV000016417.3,

[PMID 3957698] First observation of hemoglobin J-Iran [beta 77 (EF1)His----Asp] in Turkey.

[PMID 6019668] Abnormal haemoglobins in Iran. Observation of a new variant--haemoglobin J Iran (alpha-2-beta-2 77 His--Asp).

[PMID 1787102] Hb Fukuyama or alpha 2 beta(2)77(EF1)His----Tyr observed in an Indonesian female.

[PMID 1917540] Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr].

[PMID 3170240] Hb Fukuyama [beta 77(EF1)His----Tyr]: a new abnormal hemoglobin discovered in a Japanese.

[PMID 8226093] Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis.