rs35152987

minus

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

Make rs35152987(G;T)

Make rs35152987(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5234352

Gene

HBD

is a	snp
is	mentioned by
dbSNP	rs35152987
dbSNP (classic)	rs35152987
ClinGen	rs35152987
ebi	rs35152987
HLI	rs35152987
Exac	rs35152987
Gnomad	rs35152987
Varsome	rs35152987
LitVar	rs35152987
Map	rs35152987
PheGenI	rs35152987
Biobank	rs35152987
1000 genomes	rs35152987
hgdp	rs35152987
ensembl	rs35152987
geneview	rs35152987
scholar	rs35152987
google	rs35152987
pharmgkb	rs35152987
gwascentral	rs35152987
openSNP	rs35152987
23andMe	rs35152987
SNPshot	rs35152987
SNPdbe	rs35152987
MSV3d	rs35152987
GWAS Ctlg	rs35152987

GMAF

0.0009183

Max Magnitude

0

?

(G;G) (G;T) (T;T)

28

OMIM	142000
Desc
Variant	0028
Related	also

ClinVar
Risk	rs35152987(T;T)
Alt	rs35152987(T;T)
Reference	Rs35152987(G;G)
Significance	Other
Disease	delta Thalassemia HEMOGLOBIN A(2) YIALOUSA not provided
Variation	info
Gene	HBD
CLNDBN	delta Thalassemia HEMOGLOBIN A(2) YIALOUSA not provided
Reversed	1
HGVS	NC_000011.9:g.5255582C>A
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016221.25, RCV000016222.1, RCV000398301.1,

[PMID 1688506] Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level.

[PMID 1742490] Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.

[PMID 3401592] Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia.

[PMID 7504402] A novel Mediterranean "delta beta-thalassemia" determinant containing the delta (+) 27 and beta (0) 39 point mutations in cis.

[PMID 8364213] Analysis of delta-globin gene mutations in Greek cypriots.

[PMID 12402333] Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.