rs587777821

Orientation

plus

Stabilized

plus

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

Make rs587777821(A;A)

Make rs587777821(A;C)

Reference

GRCh38 38.1/142

Chromosome

1

Position

46192307

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs587777821
dbSNP (classic)	rs587777821
ClinGen	rs587777821
ebi	rs587777821
HLI	rs587777821
Exac	rs587777821
Gnomad	rs587777821
Varsome	rs587777821
LitVar	rs587777821
Map	rs587777821
PheGenI	rs587777821
Biobank	rs587777821
1000 genomes	rs587777821
hgdp	rs587777821
ensembl	rs587777821
geneview	rs587777821
scholar	rs587777821
google	rs587777821
pharmgkb	rs587777821
gwascentral	rs587777821
openSNP	rs587777821
23andMe	rs587777821
SNPshot	rs587777821
SNPdbe	rs587777821
MSV3d	rs587777821
GWAS Ctlg	rs587777821

Max Magnitude

0

ClinVar
Risk	rs587777821(A;A) rs587777821(G;G) rs587777821(T;T)
Alt	rs587777821(A;A) rs587777821(G;G) rs587777821(T;T)
Reference	Rs587777821(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	POMGNT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Reversed	0
HGVS	NC_000001.10:g.46657979C>A; NC_000001.10:g.46657979C>G; NC_000001.10:g.46657979C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004193.3, RCV000192386.1, RCV000004194.4,