rs34224604

Orientation

minus

Stabilized

minus

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

Make rs34224604(-;-)

Make rs34224604(-;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5234128

Gene

HBD

is a	snp
is	mentioned by
dbSNP	rs34224604
dbSNP (classic)	rs34224604
ClinGen	rs34224604
ebi	rs34224604
HLI	rs34224604
Exac	rs34224604
Gnomad	rs34224604
Varsome	rs34224604
LitVar	rs34224604
Map	rs34224604
PheGenI	rs34224604
Biobank	rs34224604
1000 genomes	rs34224604
hgdp	rs34224604
ensembl	rs34224604
geneview	rs34224604
scholar	rs34224604
google	rs34224604
pharmgkb	rs34224604
gwascentral	rs34224604
openSNP	rs34224604
23andMe	rs34224604
SNPshot	rs34224604
SNPdbe	rs34224604
MSV3d	rs34224604
GWAS Ctlg	rs34224604

Merged from

Rs606231215

Max Magnitude

0

OMIM	142000
Desc
Variant	0023
Related	also

ClinVar
Risk	rs34224604(-;-)
Alt	rs34224604(-;-)
Reference	Rs34224604(A;A)
Significance	Pathogenic
Disease	Delta-zero-thalassemia
Variation	info
Gene	HBD
CLNDBN	Delta-zero-thalassemia, knossos type
Reversed	1
HGVS	NC_000011.9:g.5255357delT
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016215.25,

[PMID 1873227] A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families.