rs63751218

Orientation

minus

Stabilized

minus

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

Make rs63751218(AGTGA;T)

Make rs63751218(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226671

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63751218
dbSNP (classic)	rs63751218
ClinGen	rs63751218
ebi	rs63751218
HLI	rs63751218
Exac	rs63751218
Gnomad	rs63751218
Varsome	rs63751218
LitVar	rs63751218
Map	rs63751218
PheGenI	rs63751218
Biobank	rs63751218
1000 genomes	rs63751218
hgdp	rs63751218
ensembl	rs63751218
geneview	rs63751218
scholar	rs63751218
google	rs63751218
pharmgkb	rs63751218
gwascentral	rs63751218
openSNP	rs63751218
23andMe	rs63751218
SNPshot	rs63751218
SNPdbe	rs63751218
MSV3d	rs63751218
GWAS Ctlg	rs63751218

Max Magnitude

0

OMIM	141900
Desc
Variant	0472
Related	also

ClinVar
Risk	rs63751218(T;T)
Alt	rs63751218(T;T)
Reference	Rs63751218(AGTGA;AGTGA)
Significance	Pathogenic
Disease	beta^0^ Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5247901_5247905delTCACTinsA
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016826.26,

[PMID 9255617] Novel beta 0-thalassemia mutation in a Canadian woman of British descent (codons 72/73, -AGTGA, +T).