rs35518301

minus

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

Make rs35518301(A;G)

Make rs35518301(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5234514

Gene

HBD

is a	snp
is	mentioned by
dbSNP	rs35518301
dbSNP (classic)	rs35518301
ClinGen	rs35518301
ebi	rs35518301
HLI	rs35518301
Exac	rs35518301
Gnomad	rs35518301
Varsome	rs35518301
LitVar	rs35518301
Map	rs35518301
PheGenI	rs35518301
Biobank	rs35518301
1000 genomes	rs35518301
hgdp	rs35518301
ensembl	rs35518301
geneview	rs35518301
scholar	rs35518301
google	rs35518301
pharmgkb	rs35518301
gwascentral	rs35518301
openSNP	rs35518301
23andMe	rs35518301
SNPshot	rs35518301
SNPdbe	rs35518301
MSV3d	rs35518301
GWAS Ctlg	rs35518301

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

OMIM	142000
Desc
Variant	0046
Related	also

ClinVar
Risk	rs35518301(G;G)
Alt	rs35518301(G;G)
Reference	Rs35518301(A;A)
Significance	Pathogenic
Disease	Delta-plus-thalassemia
Variation	info
Gene	HBD
CLNDBN	Delta-plus-thalassemia
Reversed	1
HGVS	NC_000011.9:g.5255744T>C
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016240.24,

[PMID 15921167] Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.

[PMID 26694100 ] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.