rs386834018

Orientation

minus

Stabilized

minus

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

Make rs386834018(C;T)

Make rs386834018(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46189901

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834018
dbSNP (classic)	rs386834018
ClinGen	rs386834018
ebi	rs386834018
HLI	rs386834018
Exac	rs386834018
Gnomad	rs386834018
Varsome	rs386834018
LitVar	rs386834018
Map	rs386834018
PheGenI	rs386834018
Biobank	rs386834018
1000 genomes	rs386834018
hgdp	rs386834018
ensembl	rs386834018
geneview	rs386834018
scholar	rs386834018
google	rs386834018
pharmgkb	rs386834018
gwascentral	rs386834018
openSNP	rs386834018
23andMe	rs386834018
SNPshot	rs386834018
SNPdbe	rs386834018
MSV3d	rs386834018
GWAS Ctlg	rs386834018

Max Magnitude

0

ClinVar
Risk	rs386834018(A;A) rs386834018(T;T)
Alt	rs386834018(A;A) rs386834018(T;T)
Reference	Rs386834018(C;C)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46655573G>A
CLNSRC	ClinVar
CLNACC	RCV000049999.2,

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