rs386834017

Orientation

minus

Stabilized

minus

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

Make rs386834017(-;-)

Make rs386834017(-;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46189920

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834017
dbSNP (classic)	rs386834017
ClinGen	rs386834017
ebi	rs386834017
HLI	rs386834017
Exac	rs386834017
Gnomad	rs386834017
Varsome	rs386834017
LitVar	rs386834017
Map	rs386834017
PheGenI	rs386834017
Biobank	rs386834017
1000 genomes	rs386834017
hgdp	rs386834017
ensembl	rs386834017
geneview	rs386834017
scholar	rs386834017
google	rs386834017
pharmgkb	rs386834017
gwascentral	rs386834017
openSNP	rs386834017
23andMe	rs386834017
SNPshot	rs386834017
SNPdbe	rs386834017
MSV3d	rs386834017
GWAS Ctlg	rs386834017

Max Magnitude

0

ClinVar
Risk	rs386834017(-;-)
Alt	rs386834017(-;-)
Reference	Rs386834017(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46655592delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004196.3, RCV000049998.1,

[PMID 11709191] Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.