rs386834031

Orientation

minus

Stabilized

minus

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

Make rs386834031(-;-)

Make rs386834031(-;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46194903

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834031
dbSNP (classic)	rs386834031
ClinGen	rs386834031
ebi	rs386834031
HLI	rs386834031
Exac	rs386834031
Gnomad	rs386834031
Varsome	rs386834031
LitVar	rs386834031
Map	rs386834031
PheGenI	rs386834031
Biobank	rs386834031
1000 genomes	rs386834031
hgdp	rs386834031
ensembl	rs386834031
geneview	rs386834031
scholar	rs386834031
google	rs386834031
pharmgkb	rs386834031
gwascentral	rs386834031
openSNP	rs386834031
23andMe	rs386834031
SNPshot	rs386834031
SNPdbe	rs386834031
MSV3d	rs386834031
GWAS Ctlg	rs386834031

Max Magnitude

0

ClinVar
Risk	rs386834031(-;-)
Alt	rs386834031(-;-)
Reference	Rs386834031(G;G)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46660575delC
CLNSRC	ClinVar
CLNACC	RCV000050014.1,

[PMID 17906881] Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.