rs35324967

Orientation

minus

Stabilized

minus

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

Make rs35324967(A;A)

Make rs35324967(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5232765

Gene

HBD

is a	snp
is	mentioned by
dbSNP	rs35324967
dbSNP (classic)	rs35324967
ClinGen	rs35324967
ebi	rs35324967
HLI	rs35324967
Exac	rs35324967
Gnomad	rs35324967
Varsome	rs35324967
LitVar	rs35324967
Map	rs35324967
PheGenI	rs35324967
Biobank	rs35324967
1000 genomes	rs35324967
hgdp	rs35324967
ensembl	rs35324967
geneview	rs35324967
scholar	rs35324967
google	rs35324967
pharmgkb	rs35324967
gwascentral	rs35324967
openSNP	rs35324967
23andMe	rs35324967
SNPshot	rs35324967
SNPdbe	rs35324967
MSV3d	rs35324967
GWAS Ctlg	rs35324967

Max Magnitude

0

OMIM	142000
Desc
Variant	0026
Related	also

ClinVar
Risk	rs35324967(A;A)
Alt	rs35324967(A;A)
Reference	Rs35324967(G;G)
Significance	Pathogenic
Disease	delta Thalassemia
Variation	info
Gene	HBD
CLNDBN	delta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5253995C>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016219.25,

[PMID 1309671] Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene.