rs193919336

Orientation

minus

Stabilized

minus

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

Make rs193919336(A;A)

Make rs193919336(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46193873

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs193919336
dbSNP (classic)	rs193919336
ClinGen	rs193919336
ebi	rs193919336
HLI	rs193919336
Exac	rs193919336
Gnomad	rs193919336
Varsome	rs193919336
LitVar	rs193919336
Map	rs193919336
PheGenI	rs193919336
Biobank	rs193919336
1000 genomes	rs193919336
hgdp	rs193919336
ensembl	rs193919336
geneview	rs193919336
scholar	rs193919336
google	rs193919336
pharmgkb	rs193919336
gwascentral	rs193919336
openSNP	rs193919336
23andMe	rs193919336
SNPshot	rs193919336
SNPdbe	rs193919336
MSV3d	rs193919336
GWAS Ctlg	rs193919336

Max Magnitude

0

ClinVar
Risk	rs193919336(A;A) rs193919336(C;C) rs193919336(T;T)
Alt	rs193919336(A;A) rs193919336(C;C) rs193919336(T;T)
Reference	Rs193919336(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46659545C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004200.4, RCV000049989.1,

[PMID 15236414] POMGnT1 gene alterations in a family with neurological abnormalities.

[PMID 17559086] Molecular heterogeneity in fetal forms of type II lissencephaly.

[PMID 20215985] Muscle-Eye-Brain disease.