rs753340395

Orientation

plus

Stabilized

plus

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

Make rs753340395(C;T)

Make rs753340395(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

235458649

Gene

B3GALNT2

is a	snp
is	mentioned by
dbSNP	rs753340395
dbSNP (classic)	rs753340395
ClinGen	rs753340395
ebi	rs753340395
HLI	rs753340395
Exac	rs753340395
Gnomad	rs753340395
Varsome	rs753340395
LitVar	rs753340395
Map	rs753340395
PheGenI	rs753340395
Biobank	rs753340395
1000 genomes	rs753340395
hgdp	rs753340395
ensembl	rs753340395
geneview	rs753340395
scholar	rs753340395
google	rs753340395
pharmgkb	rs753340395
gwascentral	rs753340395
openSNP	rs753340395
23andMe	rs753340395
SNPshot	rs753340395
SNPdbe	rs753340395
MSV3d	rs753340395
GWAS Ctlg	rs753340395

Max Magnitude

0

ClinVar
Risk	rs753340395(T;T)
Alt	rs753340395(T;T)
Reference	Rs753340395(C;C)
Significance	Probable-Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	B3GALNT2
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Reversed	0
HGVS	NC_000001.10:g.235621957C>T
CLNSRC
CLNACC	RCV000195857.1,