rs35433207

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs35433207(A;G)

Make rs35433207(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5234426

Gene

HBD

is a	snp
is	mentioned by
dbSNP	rs35433207
dbSNP (classic)	rs35433207
ClinGen	rs35433207
ebi	rs35433207
HLI	rs35433207
Exac	rs35433207
Gnomad	rs35433207
Varsome	rs35433207
LitVar	rs35433207
Map	rs35433207
PheGenI	rs35433207
Biobank	rs35433207
1000 genomes	rs35433207
hgdp	rs35433207
ensembl	rs35433207
geneview	rs35433207
scholar	rs35433207
google	rs35433207
pharmgkb	rs35433207
gwascentral	rs35433207
openSNP	rs35433207
23andMe	rs35433207
SNPshot	rs35433207
SNPdbe	rs35433207
MSV3d	rs35433207
GWAS Ctlg	rs35433207

Max Magnitude

0

OMIM	142000
Desc
Variant	0014
Related	also

ClinVar
Risk	rs35433207(G;G) rs35433207(T;T)
Alt	rs35433207(G;G) rs35433207(T;T)
Reference	Rs35433207(A;A)
Significance	Other
Disease	HEMOGLOBIN A(2) SPHAKIA
Variation	info
Gene	HBD
CLNDBN	HEMOGLOBIN A(2) SPHAKIA
Reversed	1
HGVS	NC_000011.9:g.5255656T>C
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016202.1,

[PMID 5050942] Hemoglobins A 2 -Sphakia and A 2 -NYU in Canada.

[PMID 5909792] Hemoglobin Sphakia: a delta-chain variant of hemoglobin A2 from Crete.

[PMID 17145605] Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.