rs386834039

Orientation

minus

Stabilized

minus

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

Make rs386834039(C;T)

Make rs386834039(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46193874

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs386834039
dbSNP (classic)	rs386834039
ClinGen	rs386834039
ebi	rs386834039
HLI	rs386834039
Exac	rs386834039
Gnomad	rs386834039
Varsome	rs386834039
LitVar	rs386834039
Map	rs386834039
PheGenI	rs386834039
Biobank	rs386834039
1000 genomes	rs386834039
hgdp	rs386834039
ensembl	rs386834039
geneview	rs386834039
scholar	rs386834039
google	rs386834039
pharmgkb	rs386834039
gwascentral	rs386834039
openSNP	rs386834039
23andMe	rs386834039
SNPshot	rs386834039
SNPdbe	rs386834039
MSV3d	rs386834039
GWAS Ctlg	rs386834039

Max Magnitude

0

ClinVar
Risk	rs386834039(T;T)
Alt	rs386834039(T;T)
Reference	Rs386834039(C;C)
Significance	Pathogenic
Disease	Muscle eye brain disease not provided
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease not provided
Reversed	1
HGVS	NC_000001.10:g.46659546G>A
CLNSRC	HGMD
CLNACC	RCV000050023.1, RCV000081807.4,

[PMID 17030669] POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

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