rs28942068

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	2
(G;G)	3

Reference

GRCh38 38.1/141

Chromosome

1

Position

46192159

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs28942068
dbSNP (classic)	rs28942068
ClinGen	rs28942068
ebi	rs28942068
HLI	rs28942068
Exac	rs28942068
Gnomad	rs28942068
Varsome	rs28942068
LitVar	rs28942068
Map	rs28942068
PheGenI	rs28942068
Biobank	rs28942068
1000 genomes	rs28942068
hgdp	rs28942068
ensembl	rs28942068
geneview	rs28942068
scholar	rs28942068
google	rs28942068
pharmgkb	rs28942068
gwascentral	rs28942068
openSNP	rs28942068
23andMe	rs28942068
SNPshot	rs28942068
SNPdbe	rs28942068
MSV3d	rs28942068
GWAS Ctlg	rs28942068

Max Magnitude

3

OMIM	606822
Desc	MUSCLE-EYE-BRAIN DISEASE
Variant	0005
Related	also

ClinVar
Risk	Rs28942068(G;G)
Alt	Rs28942068(G;G)
Reference	Rs28942068(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation	info
Gene	POMGNT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
Reversed	1
HGVS	NC_000001.10:g.46657831G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004197.4,