rs33954632

Orientation

minus

Stabilized

minus

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

Make rs33954632(A;A)

Make rs33954632(A;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5226939

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33954632
dbSNP (classic)	rs33954632
ClinGen	rs33954632
ebi	rs33954632
HLI	rs33954632
Exac	rs33954632
Gnomad	rs33954632
Varsome	rs33954632
LitVar	rs33954632
Map	rs33954632
PheGenI	rs33954632
Biobank	rs33954632
1000 genomes	rs33954632
hgdp	rs33954632
ensembl	rs33954632
geneview	rs33954632
scholar	rs33954632
google	rs33954632
pharmgkb	rs33954632
gwascentral	rs33954632
openSNP	rs33954632
23andMe	rs33954632
SNPshot	rs33954632
SNPdbe	rs33954632
MSV3d	rs33954632
GWAS Ctlg	rs33954632

Max Magnitude

0

OMIM	141900
Desc
Variant	0094
Related	also

OMIM	141900
Desc
Variant	0295
Related	also

ClinVar
Risk	rs33954632(A;A) rs33954632(G;G) rs33954632(T;T)
Alt	rs33954632(A;A) rs33954632(G;G) rs33954632(T;T)
Reference	Rs33954632(C;C)
Significance	Other
Disease	HEMOGLOBIN GRANGE-BLANCHE HEMOGLOBIN VOLGA HEMOGLOBIN DRENTHE
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN GRANGE-BLANCHE HEMOGLOBIN VOLGA HEMOGLOBIN DRENTHE
Reversed	1
HGVS	NC_000011.9:g.5248169G>A; NC_000011.9:g.5248169G>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016364.2, RCV000016638.3, RCV000016639.3,

[PMID 952960] Hb-Volga or alpha 2 beta 2 27(B9)Ala replaced by Asp. An unstable hemoglobin variant in three generations of a Dutch family.

[PMID 1225571] Haemoglobin Volga, beta27, (B9) Ala leads to Asp, a new highly unstable haemoglobin with a suppressed charge.

[PMID 3666141] Hemoglobin Grange-Blanche [beta 27(B9) Ala----Val], a new variant with normal expression and increased affinity for oxygen.

[PMID 9415844] Hb Siirt [beta 27(B9)Ala-->Gly]: a new, electrophoretically silent, hemoglobin variant.