rs386834023

Orientation

minus

Stabilized

minus

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

Make rs386834023(-;-)

Make rs386834023(-;GTGA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46189454

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834023
dbSNP (classic)	rs386834023
ClinGen	rs386834023
ebi	rs386834023
HLI	rs386834023
Exac	rs386834023
Gnomad	rs386834023
Varsome	rs386834023
LitVar	rs386834023
Map	rs386834023
PheGenI	rs386834023
Biobank	rs386834023
1000 genomes	rs386834023
hgdp	rs386834023
ensembl	rs386834023
geneview	rs386834023
scholar	rs386834023
google	rs386834023
pharmgkb	rs386834023
gwascentral	rs386834023
openSNP	rs386834023
23andMe	rs386834023
SNPshot	rs386834023
SNPdbe	rs386834023
MSV3d	rs386834023
GWAS Ctlg	rs386834023

Max Magnitude

0

ClinVar
Risk	rs386834023(-;-)
Alt	rs386834023(-;-)
Reference	Rs386834023(GTGA;GTGA)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46655126_46655129delTCAC
CLNSRC	ClinVar
CLNACC	RCV000050007.1,

[PMID 15466003] POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.