rs386834021

Orientation

minus

Stabilized

minus

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

Make rs386834021(-;-)

Make rs386834021(-;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46189489

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834021
dbSNP (classic)	rs386834021
ClinGen	rs386834021
ebi	rs386834021
HLI	rs386834021
Exac	rs386834021
Gnomad	rs386834021
Varsome	rs386834021
LitVar	rs386834021
Map	rs386834021
PheGenI	rs386834021
Biobank	rs386834021
1000 genomes	rs386834021
hgdp	rs386834021
ensembl	rs386834021
geneview	rs386834021
scholar	rs386834021
google	rs386834021
pharmgkb	rs386834021
gwascentral	rs386834021
openSNP	rs386834021
23andMe	rs386834021
SNPshot	rs386834021
SNPdbe	rs386834021
MSV3d	rs386834021
GWAS Ctlg	rs386834021

Max Magnitude

0

ClinVar
Risk	rs386834021(-;-)
Alt	rs386834021(-;-)
Reference	Rs386834021(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.46655161delG
CLNSRC	ClinVar
CLNACC	RCV000050003.1,

[PMID 22554691] Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.