rs33930385

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics
(GG;GG)	0	common in clinvar

Make rs33930385(G;T)

Make rs33930385(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226642

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33930385
dbSNP (classic)	rs33930385
ClinGen	rs33930385
ebi	rs33930385
HLI	rs33930385
Exac	rs33930385
Gnomad	rs33930385
Varsome	rs33930385
LitVar	rs33930385
Map	rs33930385
PheGenI	rs33930385
Biobank	rs33930385
1000 genomes	rs33930385
hgdp	rs33930385
ensembl	rs33930385
geneview	rs33930385
scholar	rs33930385
google	rs33930385
pharmgkb	rs33930385
gwascentral	rs33930385
openSNP	rs33930385
23andMe	rs33930385
SNPshot	rs33930385
SNPdbe	rs33930385
MSV3d	rs33930385
GWAS Ctlg	rs33930385

Merged from

Rs121909821, Rs121909826

Max Magnitude

0

OMIM	141900
Desc
Variant	0277
Related	also

OMIM	141900
Desc
Variant	0432
Related	also

ClinVar
Risk	rs33930385(C;C) rs33930385(T;T)
Alt	rs33930385(C;C) rs33930385(T;T)
Reference	Rs33930385(G;G)
Significance	Other
Disease	HEMOGLOBIN TA-LI HEMOGLOBIN MUSKEGON
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN TA-LI HEMOGLOBIN MUSKEGON
Reversed	1
HGVS	NC_000011.9:g.5247872C>A; NC_000011.9:g.5247872C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016618.3, RCV000016785.2,

[PMID 5129589] Hemoglobin Ta-Li: 83 Gly leads to Cys.

[PMID 11838022] Characterization of the elusive disulfide bridge forming human Hb variant: Hb Ta-Li beta83 (EF7)Gly --> Cys by electrospray mass spectrometry.

[PMID 8454474] Hb Muskegon [beta 83(EF7)Gly-->Arg]: a new variant found in a family from the U.S.