rs33957286

minus

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

Make rs33957286(A;A)

Make rs33957286(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225656

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33957286
dbSNP (classic)	rs33957286
ClinGen	rs33957286
ebi	rs33957286
HLI	rs33957286
Exac	rs33957286
Gnomad	rs33957286
Varsome	rs33957286
LitVar	rs33957286
Map	rs33957286
PheGenI	rs33957286
Biobank	rs33957286
1000 genomes	rs33957286
hgdp	rs33957286
ensembl	rs33957286
geneview	rs33957286
scholar	rs33957286
google	rs33957286
pharmgkb	rs33957286
gwascentral	rs33957286
openSNP	rs33957286
23andMe	rs33957286
SNPshot	rs33957286
SNPdbe	rs33957286
MSV3d	rs33957286
GWAS Ctlg	rs33957286

Max Magnitude

0

OMIM	141900
Desc
Variant	0130
Related	also

OMIM	141900
Desc
Variant	0499
Related	also

ClinVar
Risk	rs33957286(A;A) rs33957286(T;T)
Alt	rs33957286(A;A) rs33957286(T;T)
Reference	Rs33957286(C;C)
Significance	Other
Disease	HEMOGLOBIN SITIA HEMOGLOBIN J (GUANTANAMO)
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN SITIA HEMOGLOBIN J (GUANTANAMO)
Reversed	1
HGVS	NC_000011.9:g.5246886G>A; NC_000011.9:g.5246886G>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016850.2, RCV000016416.3,

[PMID 849451] Haemoglobin J Guantanamo (alpha 2 beta 2 128 (H6) Ala replaced by Asp). A new fast unstable haemoglobin found in a Cuban family.

[PMID 2384311] Hb J-Guantanamo in a Chilean baby.

[PMID 2841847] Hemoglobin J Guantanamo [alpha 2 beta 2 128 (H6) Ala----Asp] in association with hemoglobin C and alpha-thalassemia in a family from Benin.

[PMID 3384711] Hemoglobin J-Guantanamo [alpha 2 beta 2 128(H6)Ala----Asp] found in a Chinese family.

[PMID 8226098] Hb J-Guantanamo [alpha 2 beta 2 128(H6)Ala-->Asp] found in a Japanese family.

[PMID 11300349] Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface.