rs33946157

Orientation

minus

Stabilized

minus

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

Make rs33946157(A;A)

Make rs33946157(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226976

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33946157
dbSNP (classic)	rs33946157
ClinGen	rs33946157
ebi	rs33946157
HLI	rs33946157
Exac	rs33946157
Gnomad	rs33946157
Varsome	rs33946157
LitVar	rs33946157
Map	rs33946157
PheGenI	rs33946157
Biobank	rs33946157
1000 genomes	rs33946157
hgdp	rs33946157
ensembl	rs33946157
geneview	rs33946157
scholar	rs33946157
google	rs33946157
pharmgkb	rs33946157
gwascentral	rs33946157
openSNP	rs33946157
23andMe	rs33946157
SNPshot	rs33946157
SNPdbe	rs33946157
MSV3d	rs33946157
GWAS Ctlg	rs33946157

Merged from

Rs121909807, Rs121909816

Max Magnitude

0

OMIM	141900
Desc
Variant	0019
Related	also

OMIM	141900
Desc
Variant	0234
Related	also

ClinVar
Risk	rs33946157(A;A) rs33946157(C;C) rs33946157(G;G)
Alt	rs33946157(A;A) rs33946157(C;C) rs33946157(G;G)
Reference	Rs33946157(T;T)
Significance	Other
Disease	HEMOGLOBIN RANDWICK HEMOGLOBIN BELFAST
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN RANDWICK HEMOGLOBIN BELFAST
Reversed	1
HGVS	NC_000011.9:g.5248206A>C; NC_000011.9:g.5248206A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016564.2, RCV000016261.2,

[PMID 821297] A 2d case of haemoglobin Belfast (beta 15 (A 12) Trp replaced by Arg) observed in a French patient.

[PMID 4434089] Haemoglobin Belfast 15 (A12) tryptophan leading to arginine: a new unstable haemoglobin variant.

[PMID 6814990] Hb Belfast (beta 15 (A 12) Trp leads to Arg) in combination with G6PD deficiency in an Italian carrier.

[PMID 7141875] Hb Belfast (beta 15 Trp replaced by Arg) in an Italian family.

[PMID 15481889] Hb Belfast [beta15(A12)Trp-->Arg]: definition of the clinical and hematological phenotype.

[PMID 3384707] Hemoglobin Randwick or beta 15 (A12)Trp----Gly: a new unstable beta-chain hemoglobin variant.