rs33910475

Orientation

minus

Stabilized

minus

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

Make rs33910475(A;G)

Make rs33910475(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225624

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33910475
dbSNP (classic)	rs33910475
ClinGen	rs33910475
ebi	rs33910475
HLI	rs33910475
Exac	rs33910475
Gnomad	rs33910475
Varsome	rs33910475
LitVar	rs33910475
Map	rs33910475
PheGenI	rs33910475
Biobank	rs33910475
1000 genomes	rs33910475
hgdp	rs33910475
ensembl	rs33910475
geneview	rs33910475
scholar	rs33910475
google	rs33910475
pharmgkb	rs33910475
gwascentral	rs33910475
openSNP	rs33910475
23andMe	rs33910475
SNPshot	rs33910475
SNPdbe	rs33910475
MSV3d	rs33910475
GWAS Ctlg	rs33910475

Max Magnitude

0

OMIM	141900
Desc
Variant	0092
Related	also

OMIM	141900
Desc
Variant	0459
Related	also

ClinVar
Risk	rs33910475(G;G) rs33910475(T;T)
Alt	rs33910475(G;G) rs33910475(T;T)
Reference	Rs33910475(A;A)
Significance	Other
Disease	HEMOGLOBIN AURORA HEMOGLOBIN GEELONG HEMOGLOBIN JINAN
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN AURORA HEMOGLOBIN GEELONG HEMOGLOBIN JINAN
Reversed	1
HGVS	NC_000011.9:g.5246854T>A; NC_000011.9:g.5246854T>C
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016813.2, RCV000016360.3, RCV000016361.3,

[PMID 1917539] Hb Geelong [beta 139(H17)Asn----Asp].

[PMID 8718692] Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr].