rs33960931

Orientation

minus

Stabilized

minus

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

Make rs33960931(C;T)

Make rs33960931(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226743

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33960931
dbSNP (classic)	rs33960931
ClinGen	rs33960931
ebi	rs33960931
HLI	rs33960931
Exac	rs33960931
Gnomad	rs33960931
Varsome	rs33960931
LitVar	rs33960931
Map	rs33960931
PheGenI	rs33960931
Biobank	rs33960931
1000 genomes	rs33960931
hgdp	rs33960931
ensembl	rs33960931
geneview	rs33960931
scholar	rs33960931
google	rs33960931
pharmgkb	rs33960931
gwascentral	rs33960931
openSNP	rs33960931
23andMe	rs33960931
SNPshot	rs33960931
SNPdbe	rs33960931
MSV3d	rs33960931
GWAS Ctlg	rs33960931

Max Magnitude

0

OMIM	141900
Desc
Variant	0155
Related	also

OMIM	141900
Desc
Variant	0513
Related	also

ClinVar
Risk	rs33960931(G;G) rs33960931(T;T)
Alt	rs33960931(G;G) rs33960931(T;T)
Reference	Rs33960931(C;C)
Significance	Other
Disease	HEMOGLOBIN LAS PALMAS HEMOGLOBIN COLIMA
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN LAS PALMAS HEMOGLOBIN COLIMA
Reversed	1
HGVS	NC_000011.9:g.5247973G>A; NC_000011.9:g.5247973G>C
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016451.2, RCV000016869.2,

[PMID 3384708] Hb Las Palmas or alpha 2 beta 2(49)(CD8)Ser----Phe, a mildly unstable hemoglobin variant.

[PMID 12484635] Hb Colima [beta 49(CD8)Ser-->Cys]: a new hemoglobin variant.