rs28940869

Orientation

minus

Stabilized

minus

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

Make rs28940869(C;T)

Make rs28940869(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46192397

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs28940869
dbSNP (classic)	rs28940869
ClinGen	rs28940869
ebi	rs28940869
HLI	rs28940869
Exac	rs28940869
Gnomad	rs28940869
Varsome	rs28940869
LitVar	rs28940869
Map	rs28940869
PheGenI	rs28940869
Biobank	rs28940869
1000 genomes	rs28940869
hgdp	rs28940869
ensembl	rs28940869
geneview	rs28940869
scholar	rs28940869
google	rs28940869
pharmgkb	rs28940869
gwascentral	rs28940869
openSNP	rs28940869
23andMe	rs28940869
SNPshot	rs28940869
SNPdbe	rs28940869
MSV3d	rs28940869
GWAS Ctlg	rs28940869

Max Magnitude

0

OMIM	606822
Desc	MUSCLE-EYE-BRAIN DISEASE
Variant	0007
Related	also

ClinVar
Risk	rs28940869(T;T)
Alt	rs28940869(T;T)
Reference	Rs28940869(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies not provided Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 not provided Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46658069G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004199.4, RCV000150001.2, RCV000286327.1,