rs33941844

Orientation

minus

Stabilized

minus

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

Make rs33941844(C;C)

Make rs33941844(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225722

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33941844
dbSNP (classic)	rs33941844
ClinGen	rs33941844
ebi	rs33941844
HLI	rs33941844
Exac	rs33941844
Gnomad	rs33941844
Varsome	rs33941844
LitVar	rs33941844
Map	rs33941844
PheGenI	rs33941844
Biobank	rs33941844
1000 genomes	rs33941844
hgdp	rs33941844
ensembl	rs33941844
geneview	rs33941844
scholar	rs33941844
google	rs33941844
pharmgkb	rs33941844
gwascentral	rs33941844
openSNP	rs33941844
23andMe	rs33941844
SNPshot	rs33941844
SNPdbe	rs33941844
MSV3d	rs33941844
GWAS Ctlg	rs33941844

Max Magnitude

0

OMIM	141900
Desc
Variant	0265
Related	also

OMIM	141900
Desc
Variant	0287
Related	also

OMIM	141900
Desc
Variant	0398
Related	also

ClinVar
Risk	rs33941844(A;A) rs33941844(C;C) rs33941844(G;G)
Alt	rs33941844(A;A) rs33941844(C;C) rs33941844(G;G)
Reference	Rs33941844(T;T)
Significance	Other
Disease	HEMOGLOBIN TERRE HAUTE Beta-plus-thalassemia HEMOGLOBIN SOUTHAMPTON HEMOGLOBIN CASPER HEMOGLOBIN TUBINGEN
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN TERRE HAUTE Beta-plus-thalassemia HEMOGLOBIN SOUTHAMPTON HEMOGLOBIN CASPER HEMOGLOBIN TUBINGEN
Reversed	1
HGVS	NC_000011.9:g.5246952A>C; NC_000011.9:g.5246952A>G; NC_000011.9:g.5246952A>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016746.2, RCV000016747.26, RCV000016605.2, RCV000016606.2, RCV000016630.2,

[PMID 241397] Isolation and functional characterization of hemoglobin Casper: beta106(G8) Leu replaced by Pro.

[PMID 2910077] Hemoglobin Southampton (Casper): characterization of the base mutation.

[PMID 4743351] Hemoglobin Casper: beta 106 (G8) Leu leads to Pro; a contemporary mutation.

[PMID 16840233] Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy.

[PMID 1278400] Structural and functional characteristics of Hb Tubingen: beta 106 (G 8) Leu leads to Gln.

[PMID 8226097] Hb Tubingen [alpha 2 beta (2)106(G8)Leu-->Gln] in a Belgian Family.

[PMID 1420507] Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.

[PMID 2005117] Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis.