rs63750860

Orientation

minus

Stabilized

minus

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

Make rs63750860(CCACA;CCACA)

Make rs63750860(CCACA;GCTG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225654

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63750860
dbSNP (classic)	rs63750860
ClinGen	rs63750860
ebi	rs63750860
HLI	rs63750860
Exac	rs63750860
Gnomad	rs63750860
Varsome	rs63750860
LitVar	rs63750860
Map	rs63750860
PheGenI	rs63750860
Biobank	rs63750860
1000 genomes	rs63750860
hgdp	rs63750860
ensembl	rs63750860
geneview	rs63750860
scholar	rs63750860
google	rs63750860
pharmgkb	rs63750860
gwascentral	rs63750860
openSNP	rs63750860
23andMe	rs63750860
SNPshot	rs63750860
SNPdbe	rs63750860
MSV3d	rs63750860
GWAS Ctlg	rs63750860

Max Magnitude

0

ClinVar
Risk	rs63750860(CCACA;CCACA)
Alt	rs63750860(CCACA;CCACA)
Reference	Rs63750860(GCTG;GCTG)
Significance	Pathogenic
Disease	Beta-thalassemia
Variation	info
Gene	HBB
CLNDBN	Beta-thalassemia, dominant inclusion body type
Reversed	1
HGVS	NC_000011.9:g.5246884_5246887delCAGCinsTGTGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016876.27,

[PMID 1971109] Molecular basis for dominantly inherited inclusion body beta-thalassemia.

[PMID 4351905] A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia.