rs533916138

Orientation

plus

Stabilized

plus

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

Make rs533916138(C;T)

Make rs533916138(T;T)

Reference

GRCh38 38.1/142

Chromosome

14

Position

77298688

Gene

POMT2

is a	snp
is	mentioned by
dbSNP	rs533916138
dbSNP (classic)	rs533916138
ClinGen	rs533916138
ebi	rs533916138
HLI	rs533916138
Exac	rs533916138
Gnomad	rs533916138
Varsome	rs533916138
LitVar	rs533916138
Map	rs533916138
PheGenI	rs533916138
Biobank	rs533916138
1000 genomes	rs533916138
hgdp	rs533916138
ensembl	rs533916138
geneview	rs533916138
scholar	rs533916138
google	rs533916138
pharmgkb	rs533916138
gwascentral	rs533916138
openSNP	rs533916138
23andMe	rs533916138
SNPshot	rs533916138
SNPdbe	rs533916138
MSV3d	rs533916138
GWAS Ctlg	rs533916138

Max Magnitude

0

ClinVar
Risk	rs533916138(T;T)
Alt	rs533916138(T;T)
Reference	Rs533916138(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Limb-girdle muscular dystrophy-dystroglycanopathy
Variation	info
Gene	POMT2
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
Reversed	0
HGVS	NC_000014.8:g.77765031C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003374.3, RCV000379703.1,