rs587780422

Orientation

minus

Stabilized

minus

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

Make rs587780422(A;A)

Make rs587780422(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

77298684

Gene

POMT2

is a	snp
is	mentioned by
dbSNP	rs587780422
dbSNP (classic)	rs587780422
ClinGen	rs587780422
ebi	rs587780422
HLI	rs587780422
Exac	rs587780422
Gnomad	rs587780422
Varsome	rs587780422
LitVar	rs587780422
Map	rs587780422
PheGenI	rs587780422
Biobank	rs587780422
1000 genomes	rs587780422
hgdp	rs587780422
ensembl	rs587780422
geneview	rs587780422
scholar	rs587780422
google	rs587780422
pharmgkb	rs587780422
gwascentral	rs587780422
openSNP	rs587780422
23andMe	rs587780422
SNPshot	rs587780422
SNPdbe	rs587780422
MSV3d	rs587780422
GWAS Ctlg	rs587780422

Max Magnitude

0

ClinVar
Risk	rs587780422(A;A)
Alt	rs587780422(A;A)
Reference	Rs587780422(G;G)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy not specified
Variation	info
Gene	POMT2
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 not specified
Reversed	1
HGVS	NC_000014.8:g.77765027C>T
CLNSRC
CLNACC	RCV000118039.1, RCV000372122.1,