rs33983205

Orientation

minus

Stabilized

minus

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

Make rs33983205(A;G)

Make rs33983205(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5227014

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33983205
dbSNP (classic)	rs33983205
ClinGen	rs33983205
ebi	rs33983205
HLI	rs33983205
Exac	rs33983205
Gnomad	rs33983205
Varsome	rs33983205
LitVar	rs33983205
Map	rs33983205
PheGenI	rs33983205
Biobank	rs33983205
1000 genomes	rs33983205
hgdp	rs33983205
ensembl	rs33983205
geneview	rs33983205
scholar	rs33983205
google	rs33983205
pharmgkb	rs33983205
gwascentral	rs33983205
openSNP	rs33983205
23andMe	rs33983205
SNPshot	rs33983205
SNPdbe	rs33983205
MSV3d	rs33983205
GWAS Ctlg	rs33983205

Max Magnitude

0

OMIM	141900
Desc
Variant	0066
Related	also

OMIM	141900
Desc
Variant	0171
Related	also

OMIM	141900
Desc
Variant	0429
Related	also

ClinVar
Risk	rs33983205(C;C) rs33983205(G;G) rs33983205(T;T)
Alt	rs33983205(C;C) rs33983205(G;G) rs33983205(T;T)
Reference	Rs33983205(A;A)
Significance	Other
Disease	HEMOGLOBIN GRAZ HEMOGLOBIN DEER LODGE not specified
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN GRAZ HEMOGLOBIN DEER LODGE not specified
Reversed	1
HGVS	NC_000011.9:g.5248244T>A; NC_000011.9:g.5248244T>C; NC_000011.9:g.5248244T>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016782.3, RCV000016324.2, RCV000016485.3,

[PMID 393] Hemoglobin Deer Lodge (beta 2 His replaced by Arg). Consequences of altering the 2,3-diphosphoglycerate binding site.

[PMID 5022448] Hemoglobin Deer Lodge: 2 2 2 His leads to Arg .

[PMID 1487420] Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria.