rs386834020

Orientation

minus

Stabilized

minus

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

Make rs386834020(G;G)

Make rs386834020(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46189852

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834020
dbSNP (classic)	rs386834020
ClinGen	rs386834020
ebi	rs386834020
HLI	rs386834020
Exac	rs386834020
Gnomad	rs386834020
Varsome	rs386834020
LitVar	rs386834020
Map	rs386834020
PheGenI	rs386834020
Biobank	rs386834020
1000 genomes	rs386834020
hgdp	rs386834020
ensembl	rs386834020
geneview	rs386834020
scholar	rs386834020
google	rs386834020
pharmgkb	rs386834020
gwascentral	rs386834020
openSNP	rs386834020
23andMe	rs386834020
SNPshot	rs386834020
SNPdbe	rs386834020
MSV3d	rs386834020
GWAS Ctlg	rs386834020

Max Magnitude

0

ClinVar
Risk	rs386834020(G;G)
Alt	rs386834020(G;G)
Reference	Rs386834020(T;T)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46655524A>C
CLNSRC	ClinVar
CLNACC	RCV000050001.1,

[PMID 17878207] Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.