rs587777818

Orientation

plus

Stabilized

plus

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

Make rs587777818(-;-)

Make rs587777818(-;CCT)

Reference

GRCh38 38.1/142

Chromosome

9

Position

131515444

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs587777818
dbSNP (classic)	rs587777818
ClinGen	rs587777818
ebi	rs587777818
HLI	rs587777818
Exac	rs587777818
Gnomad	rs587777818
Varsome	rs587777818
LitVar	rs587777818
Map	rs587777818
PheGenI	rs587777818
Biobank	rs587777818
1000 genomes	rs587777818
hgdp	rs587777818
ensembl	rs587777818
geneview	rs587777818
scholar	rs587777818
google	rs587777818
pharmgkb	rs587777818
gwascentral	rs587777818
openSNP	rs587777818
23andMe	rs587777818
SNPshot	rs587777818
SNPdbe	rs587777818
MSV3d	rs587777818
GWAS Ctlg	rs587777818

Max Magnitude

0

ClinVar
Risk	rs587777818(-;-)
Alt	rs587777818(-;-)
Reference	Rs587777818(CCT;CCT)
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.134390831_134390833delCCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003397.4,