rs33935445

minus

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

Make rs33935445(C;C)

Make rs33935445(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226978

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33935445
dbSNP (classic)	rs33935445
ClinGen	rs33935445
ebi	rs33935445
HLI	rs33935445
Exac	rs33935445
Gnomad	rs33935445
Varsome	rs33935445
LitVar	rs33935445
Map	rs33935445
PheGenI	rs33935445
Biobank	rs33935445
1000 genomes	rs33935445
hgdp	rs33935445
ensembl	rs33935445
geneview	rs33935445
scholar	rs33935445
google	rs33935445
pharmgkb	rs33935445
gwascentral	rs33935445
openSNP	rs33935445
23andMe	rs33935445
SNPshot	rs33935445
SNPdbe	rs33935445
MSV3d	rs33935445
GWAS Ctlg	rs33935445

Max Magnitude

0

OMIM	141900
Desc
Variant	0251
Related	also

OMIM	141900
Desc
Variant	0264
Related	also

ClinVar
Risk	rs33935445(C;C) rs33935445(G;G)
Alt	rs33935445(C;C) rs33935445(G;G)
Reference	Rs33935445(T;T)
Significance	Other
Disease	HEMOGLOBIN SOGN HEMOGLOBIN SAKI
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN SOGN HEMOGLOBIN SAKI
Reversed	1
HGVS	NC_000011.9:g.5248208A>C; NC_000011.9:g.5248208A>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016604.2, RCV000016584.3,

[PMID 2366586] Two families with hemoglobin Sogn, beta(A11)14 Leu----Arg, in Minnesota and Indiana: hematologic, functional, and biosynthetic features.

[PMID 4994348] Hb Sogn (beta 14 arginine). Haematological and genetical studies.

[PMID 5710451] Haemoglobin Sogn (beta 14 arginine) a new haemoglobin variant.

[PMID 8811316] Hb Sogn or alpha 2 beta 2 14(A11)Leu-->Arg in combination with an alpha-thalassemia heterozygosity.

[PMID 237566] Haemoglobin Saki alpha 2 beta 2 14 Leu-Pro(a11) structure and function.

[PMID 998617] Thalassemia intermedia caused by heterozygosity for both beta-thalassemia and hemoglobin Saki [beta 14 (A11) Leu replaced by Pro].