rs35654785

Orientation

minus

Stabilized

minus

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

Make rs35654785(C;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5234342

Gene

HBD

is a	snp
is	mentioned by
dbSNP	rs35654785
dbSNP (classic)	rs35654785
ClinGen	rs35654785
ebi	rs35654785
HLI	rs35654785
Exac	rs35654785
Gnomad	rs35654785
Varsome	rs35654785
LitVar	rs35654785
Map	rs35654785
PheGenI	rs35654785
Biobank	rs35654785
1000 genomes	rs35654785
hgdp	rs35654785
ensembl	rs35654785
geneview	rs35654785
scholar	rs35654785
google	rs35654785
pharmgkb	rs35654785
gwascentral	rs35654785
openSNP	rs35654785
23andMe	rs35654785
SNPshot	rs35654785
SNPdbe	rs35654785
MSV3d	rs35654785
GWAS Ctlg	rs35654785

Max Magnitude

0

OMIM	142000
Desc
Variant	0029
Related	also

ClinVar
Risk	Rs35654785(C;C)
Alt	Rs35654785(C;C)
Reference	Rs35654785(G;G)
Significance	Pathogenic
Disease	delta Thalassemia
Variation	info
Gene	HBD
CLNDBN	delta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5255572C>G
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016223.25,

[PMID 2291578] Molecular analysis of atypical beta-thalassemia heterozygotes.