Rs119463989

Orientation

minus

is a	snp
is	mentioned by
dbSNP	rs119463989
PheGenI	rs119463989
nextbio	rs119463989
hapmap	rs119463989
1000 genomes	rs119463989
hgdp	rs119463989
ensembl	rs119463989
gopubmed	rs119463989
geneview	rs119463989
scholar	rs119463989
google	rs119463989
pharmgkb	rs119463989
gwascentral	rs119463989
openSNP	rs119463989
23andMe	rs119463989
23andMe all	rs119463989
SNP Nexus
SNPshot	rs119463989
SNPdbe	rs119463989
MSV3d	rs119463989

Gene

POMT2

Chromosome

14

Orientation

minus

Position

77745192

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs119463989(C;T)

Make rs119463989(T;T)

OMIM	607439
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119463989(T;T)
Normal	rs119463989(C;C)
Significance	5
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and
ClinVar	info
Gene	POMT2
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and
Reversed	1
CLNHGVS	NC_000014.8:g.77745192G>A
CLNSRC	OMIM Allelic Variant