rs397509396

Orientation

minus

Stabilized

minus

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

Make rs397509396(C;T)

Make rs397509396(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66346080

Gene	B4GAT1, BRMS1, LOC102724064

is a	snp
is	mentioned by
dbSNP	rs397509396
dbSNP (classic)	rs397509396
ClinGen	rs397509396
ebi	rs397509396
HLI	rs397509396
Exac	rs397509396
Gnomad	rs397509396
Varsome	rs397509396
LitVar	rs397509396
Map	rs397509396
PheGenI	rs397509396
Biobank	rs397509396
1000 genomes	rs397509396
hgdp	rs397509396
ensembl	rs397509396
geneview	rs397509396
scholar	rs397509396
google	rs397509396
pharmgkb	rs397509396
gwascentral	rs397509396
openSNP	rs397509396
23andMe	rs397509396
SNPshot	rs397509396
SNPdbe	rs397509396
MSV3d	rs397509396
GWAS Ctlg	rs397509396

Max Magnitude

0

ClinVar
Risk	rs397509396(T;T)
Alt	rs397509396(T;T)
Reference	Rs397509396(C;C)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	LOC102724064 B4GAT1 BRMS1
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
Reversed	1
HGVS	NC_000011.9:g.66113551G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043695.6,