rs587777817

Orientation

plus

Stabilized

plus

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

Make rs587777817(-;G)

Make rs587777817(G;G)

Reference

GRCh38 38.1/142

Chromosome

9

Position

131522972

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs587777817
dbSNP (classic)	rs587777817
ClinGen	rs587777817
ebi	rs587777817
HLI	rs587777817
Exac	rs587777817
Gnomad	rs587777817
Varsome	rs587777817
LitVar	rs587777817
Map	rs587777817
PheGenI	rs587777817
Biobank	rs587777817
1000 genomes	rs587777817
hgdp	rs587777817
ensembl	rs587777817
geneview	rs587777817
scholar	rs587777817
google	rs587777817
pharmgkb	rs587777817
gwascentral	rs587777817
openSNP	rs587777817
23andMe	rs587777817
SNPshot	rs587777817
SNPdbe	rs587777817
MSV3d	rs587777817
GWAS Ctlg	rs587777817

Max Magnitude

0

ClinVar
Risk	rs587777817(G;G)
Alt	rs587777817(G;G)
Reference	Rs587777817(-;-)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	POMT1
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed	0
HGVS	NC_000009.11:g.134398359dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003396.6,