rs386834016

Orientation

minus

Stabilized

minus

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

Make rs386834016(A;G)

Make rs386834016(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46190786

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834016
dbSNP (classic)	rs386834016
ClinGen	rs386834016
ebi	rs386834016
HLI	rs386834016
Exac	rs386834016
Gnomad	rs386834016
Varsome	rs386834016
LitVar	rs386834016
Map	rs386834016
PheGenI	rs386834016
Biobank	rs386834016
1000 genomes	rs386834016
hgdp	rs386834016
ensembl	rs386834016
geneview	rs386834016
scholar	rs386834016
google	rs386834016
pharmgkb	rs386834016
gwascentral	rs386834016
openSNP	rs386834016
23andMe	rs386834016
SNPshot	rs386834016
SNPdbe	rs386834016
MSV3d	rs386834016
GWAS Ctlg	rs386834016

Max Magnitude

0

ClinVar
Risk	rs386834016(G;G)
Alt	rs386834016(G;G)
Reference	Rs386834016(A;A)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46656458T>C
CLNSRC	ClinVar
CLNACC	RCV000049997.1,

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