rs386834030

Orientation

minus

Stabilized

minus

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

Make rs386834030(A;C)

Make rs386834030(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46195819

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834030
dbSNP (classic)	rs386834030
ClinGen	rs386834030
ebi	rs386834030
HLI	rs386834030
Exac	rs386834030
Gnomad	rs386834030
Varsome	rs386834030
LitVar	rs386834030
Map	rs386834030
PheGenI	rs386834030
Biobank	rs386834030
1000 genomes	rs386834030
hgdp	rs386834030
ensembl	rs386834030
geneview	rs386834030
scholar	rs386834030
google	rs386834030
pharmgkb	rs386834030
gwascentral	rs386834030
openSNP	rs386834030
23andMe	rs386834030
SNPshot	rs386834030
SNPdbe	rs386834030
MSV3d	rs386834030
GWAS Ctlg	rs386834030

Max Magnitude

0

ClinVar
Risk	rs386834030(C;C) rs386834030(G;G)
Alt	rs386834030(C;C) rs386834030(G;G)
Reference	Rs386834030(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.46661491T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000050013.1,

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