rs33926796

Orientation

minus

Stabilized

minus

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

Make rs33926796(C;C)

Make rs33926796(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226767

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33926796
dbSNP (classic)	rs33926796
ClinGen	rs33926796
ebi	rs33926796
HLI	rs33926796
Exac	rs33926796
Gnomad	rs33926796
Varsome	rs33926796
LitVar	rs33926796
Map	rs33926796
PheGenI	rs33926796
Biobank	rs33926796
1000 genomes	rs33926796
hgdp	rs33926796
ensembl	rs33926796
geneview	rs33926796
scholar	rs33926796
google	rs33926796
pharmgkb	rs33926796
gwascentral	rs33926796
openSNP	rs33926796
23andMe	rs33926796
SNPshot	rs33926796
SNPdbe	rs33926796
MSV3d	rs33926796
GWAS Ctlg	rs33926796

Max Magnitude

0

OMIM	141900
Desc
Variant	0174
Related	also

OMIM	141900
Desc
Variant	0441
Related	also

OMIM	141900
Desc
Variant	0511
Related	also

ClinVar
Risk	rs33926796(A;A) rs33926796(C;C) rs33926796(G;G)
Alt	rs33926796(A;A) rs33926796(C;C) rs33926796(G;G)
Reference	Rs33926796(T;T)
Significance	Other
Disease	HEMOGLOBIN ILMENAU HEMOGLOBIN DENVER HEMOGLOBIN MEQUON
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN ILMENAU HEMOGLOBIN DENVER HEMOGLOBIN MEQUON
Reversed	1
HGVS	NC_000011.9:g.5247997A>C; NC_000011.9:g.5247997A>G; NC_000011.9:g.5247997A>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016865.2, RCV000016795.2, RCV000016488.2,

[PMID 974262] Hemoglobin M equon beta 41 (C7) phenylalanine leads to tyrosine.

[PMID 8133661] Hemoglobin Denver [alpha 2 beta 2(41) (C7) Phe-->Ser]: a low-O2-affinity variant associated with chronic cyanosis and anemia.

[PMID 12144060] A new unstable hemoglobin variant with low oxygen affinity: Hb Ilmenau [beta41 (C7)Phe-->Cys].