rs587777820

Orientation

plus

Stabilized

plus

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

Make rs587777820(-;-)

Make rs587777820(-;ATG)

Make rs587777820(ATG;ATG)

Reference

GRCh38 38.1/142

Chromosome

9

Position

131507505

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs587777820
dbSNP (classic)	rs587777820
ClinGen	rs587777820
ebi	rs587777820
HLI	rs587777820
Exac	rs587777820
Gnomad	rs587777820
Varsome	rs587777820
LitVar	rs587777820
Map	rs587777820
PheGenI	rs587777820
Biobank	rs587777820
1000 genomes	rs587777820
hgdp	rs587777820
ensembl	rs587777820
geneview	rs587777820
scholar	rs587777820
google	rs587777820
pharmgkb	rs587777820
gwascentral	rs587777820
openSNP	rs587777820
23andMe	rs587777820
SNPshot	rs587777820
SNPdbe	rs587777820
MSV3d	rs587777820
GWAS Ctlg	rs587777820

Max Magnitude

0

ClinVar
Risk	rs587777820(-;-)
Alt	rs587777820(-;-)
Reference	Rs587777820(TGA;TGA)
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.134382892_134382894delATG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003410.4,