rs587777819

Orientation

plus

Stabilized

plus

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

Make rs587777819(-;-)

Make rs587777819(-;TC)

Make rs587777819(TC;TC)

Reference

GRCh38 38.1/142

Chromosome

9

Position

131523041

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs587777819
dbSNP (classic)	rs587777819
ClinGen	rs587777819
ebi	rs587777819
HLI	rs587777819
Exac	rs587777819
Gnomad	rs587777819
Varsome	rs587777819
LitVar	rs587777819
Map	rs587777819
PheGenI	rs587777819
Biobank	rs587777819
1000 genomes	rs587777819
hgdp	rs587777819
ensembl	rs587777819
geneview	rs587777819
scholar	rs587777819
google	rs587777819
pharmgkb	rs587777819
gwascentral	rs587777819
openSNP	rs587777819
23andMe	rs587777819
SNPshot	rs587777819
SNPdbe	rs587777819
MSV3d	rs587777819
GWAS Ctlg	rs587777819

Max Magnitude

0

ClinVar
Risk	rs587777819(-;-)
Alt	rs587777819(-;-)
Reference	Rs587777819(CT;CT)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) not provided
Variation	info
Gene	POMT1
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 not provided
Reversed	0
HGVS	NC_000009.11:g.134398428_134398429delTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003408.4, RCV000150016.2,