rs386834022

Orientation

minus

Stabilized

minus

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

Make rs386834022(-;-)

Make rs386834022(-;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46189477

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834022
dbSNP (classic)	rs386834022
ClinGen	rs386834022
ebi	rs386834022
HLI	rs386834022
Exac	rs386834022
Gnomad	rs386834022
Varsome	rs386834022
LitVar	rs386834022
Map	rs386834022
PheGenI	rs386834022
Biobank	rs386834022
1000 genomes	rs386834022
hgdp	rs386834022
ensembl	rs386834022
geneview	rs386834022
scholar	rs386834022
google	rs386834022
pharmgkb	rs386834022
gwascentral	rs386834022
openSNP	rs386834022
23andMe	rs386834022
SNPshot	rs386834022
SNPdbe	rs386834022
MSV3d	rs386834022
GWAS Ctlg	rs386834022

Max Magnitude

0

ClinVar
Risk	rs386834022(-;-)
Alt	rs386834022(-;-)
Reference	Rs386834022(G;G)
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.46655149delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004198.2, RCV000050004.2,

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