rs33936254

Orientation

minus

Stabilized

minus

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

Make rs33936254(A;C)

Make rs33936254(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226954

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33936254
dbSNP (classic)	rs33936254
ClinGen	rs33936254
ebi	rs33936254
HLI	rs33936254
Exac	rs33936254
Gnomad	rs33936254
Varsome	rs33936254
LitVar	rs33936254
Map	rs33936254
PheGenI	rs33936254
Biobank	rs33936254
1000 genomes	rs33936254
hgdp	rs33936254
ensembl	rs33936254
geneview	rs33936254
scholar	rs33936254
google	rs33936254
pharmgkb	rs33936254
gwascentral	rs33936254
openSNP	rs33936254
23andMe	rs33936254
SNPshot	rs33936254
SNPdbe	rs33936254
MSV3d	rs33936254
GWAS Ctlg	rs33936254

Max Magnitude

0

OMIM	141900
Desc
Variant	0061
Related	also

OMIM	141900
Desc
Variant	0081
Related	also

OMIM	141900
Desc
Variant	0088
Related	also

ClinVar
Risk	rs33936254(C;C) rs33936254(G;G) rs33936254(T;T)
Alt	rs33936254(C;C) rs33936254(G;G) rs33936254(T;T)
Reference	Rs33936254(A;A)
Significance	Other
Disease	HEMOGLOBIN D (GRANADA) HEMOGLOBIN G (TAIPEI) HEMOGLOBIN G (COUSHATTA) HEMOGLOBIN G (SASKATOON) HEMOGLOBIN G (HSIN-CHU) HEMOGLOBIN G (TAEGU) Beta Thalassemia not provided
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN D (GRANADA) HEMOGLOBIN G (TAIPEI) HEMOGLOBIN G (COUSHATTA) HEMOGLOBIN G (SASKATOON) HEMOGLOBIN G (HSIN-CHU) HEMOGLOBIN G (TAEGU) beta Thalassemia not provided
Reversed	1
HGVS	NC_000011.9:g.5248184T>A; NC_000011.9:g.5248184T>C; NC_000011.9:g.5248184T>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016312.3, RCV000016356.3, RCV000016343.3, RCV000016344.3, RCV000016345.3, RCV000016346.3, RCV000030001.1, RCV000224041.1,

[PMID 140] Regulation and properties of an invertase from Clostridium pasteurianum.

[PMID 721611] Occurrence of hemoglobin G Coushatta in Japan.

[PMID 2265836] Abnormal hemoglobins in the Silk Road region of China.

[PMID 2703366] Hb G-Coushatta or alpha 2 beta 222(B4)Glu----Ala in a Turkish male.

[PMID 5658717] Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala.

[PMID 5791015] Hemoglobin variant found in Koreans, Chinese, and North American Indians: alpha-2 beta-2 22 Glu Ala.

[PMID 9048934] Identification of novel Asian Indian and Japanese mutations causing beta-thalassaemia in the Egyptian population. [PMID 3623978] Hb G-Taipei or beta 22(B4)Glu----Gly in a Chinese family living in The Netherlands.

[PMID 6021187] Hemoglobin G Saskatoon: beta-22Glu--Ala.

[PMID 10081986] Genetic studies suggest a multicentric origin for Hb G-Coushatta [beta22(B4)Glu-->Ala].

[PMID 3446652] Hb D-Granada or alpha 2 beta 2 22(B4)Glu----Val.