rs33918474

Orientation

minus

Stabilized

minus

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

Make rs33918474(A;A)

Make rs33918474(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226960

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33918474
dbSNP (classic)	rs33918474
ClinGen	rs33918474
ebi	rs33918474
HLI	rs33918474
Exac	rs33918474
Gnomad	rs33918474
Varsome	rs33918474
LitVar	rs33918474
Map	rs33918474
PheGenI	rs33918474
Biobank	rs33918474
1000 genomes	rs33918474
hgdp	rs33918474
ensembl	rs33918474
geneview	rs33918474
scholar	rs33918474
google	rs33918474
pharmgkb	rs33918474
gwascentral	rs33918474
openSNP	rs33918474
23andMe	rs33918474
SNPshot	rs33918474
SNPdbe	rs33918474
MSV3d	rs33918474
GWAS Ctlg	rs33918474

Max Magnitude

0

OMIM	141900
Desc
Variant	0450
Related	also

ClinVar
Risk	rs33918474(A;A) rs33918474(G;G)
Alt	rs33918474(A;A) rs33918474(G;G)
Reference	Rs33918474(T;T)
Significance	Other
Disease	HEMOGLOBIN TROLLHAETTAN
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN TROLLHAETTAN
Reversed	1
HGVS	NC_000011.9:g.5248190A>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016805.3,

[PMID 7914875] Hb Trollhattan [beta 20(B2)Val-->Glu]--a new haemoglobin variant with increased oxygen affinity causing erythrocytosis.

[PMID 8936460] Hb Uxbridge [beta 20 (B2)Val-->Gly]: a new variant with mild increase in oxygen affinity found during a neonatal screening program.