rs33932981

Orientation

minus

Stabilized

minus

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

Make rs33932981(A;C)

Make rs33932981(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226996

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33932981
dbSNP (classic)	rs33932981
ClinGen	rs33932981
ebi	rs33932981
HLI	rs33932981
Exac	rs33932981
Gnomad	rs33932981
Varsome	rs33932981
LitVar	rs33932981
Map	rs33932981
PheGenI	rs33932981
Biobank	rs33932981
1000 genomes	rs33932981
hgdp	rs33932981
ensembl	rs33932981
geneview	rs33932981
scholar	rs33932981
google	rs33932981
pharmgkb	rs33932981
gwascentral	rs33932981
openSNP	rs33932981
23andMe	rs33932981
SNPshot	rs33932981
SNPdbe	rs33932981
MSV3d	rs33932981
GWAS Ctlg	rs33932981

Max Magnitude

0

OMIM	141900
Desc
Variant	0237
Related	also

OMIM	141900
Desc
Variant	0460
Related	also

OMIM	141900
Desc
Variant	0484
Related	also

ClinVar
Risk	rs33932981(C;C) rs33932981(G;G) rs33932981(T;T)
Alt	rs33932981(C;C) rs33932981(G;G) rs33932981(T;T)
Reference	Rs33932981(A;A)
Significance	Other
Disease	HEMOGLOBIN NAKANO HEMOGLOBIN LUCKNOW HEMOGLOBIN RIO GRANDE
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN NAKANO HEMOGLOBIN LUCKNOW HEMOGLOBIN RIO GRANDE
Reversed	1
HGVS	NC_000011.9:g.5248226T>A; NC_000011.9:g.5248226T>C; NC_000011.9:g.5248226T>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016814.2, RCV000016839.2, RCV000030668.3,

[PMID 6857757] Hemoglobin Rio Grande [beta 8 (A5) Lys leads to Thr] a new variant found in a Mexican-American family.

[PMID 8718698] Hb Nakano [beta 8(Lys-->Met]: a new beta chain variant found in a Japanese woman.

[PMID 10490139] A novel Indian beta-thalassemia mutation: Hb Lucknow [beta8(A5)Lys-->Arg]].