rs119462981

Orientation

plus

Stabilized

plus

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

Make rs119462981(C;T)

Make rs119462981(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131510401

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs119462981
dbSNP (classic)	rs119462981
ClinGen	rs119462981
ebi	rs119462981
HLI	rs119462981
Exac	rs119462981
Gnomad	rs119462981
Varsome	rs119462981
LitVar	rs119462981
Map	rs119462981
PheGenI	rs119462981
Biobank	rs119462981
1000 genomes	rs119462981
hgdp	rs119462981
ensembl	rs119462981
geneview	rs119462981
scholar	rs119462981
google	rs119462981
pharmgkb	rs119462981
gwascentral	rs119462981
openSNP	rs119462981
23andMe	rs119462981
SNPshot	rs119462981
SNPdbe	rs119462981
MSV3d	rs119462981
GWAS Ctlg	rs119462981

Max Magnitude

0

OMIM	607423
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119462981(T;T)
Alt	rs119462981(T;T)
Reference	Rs119462981(C;C)
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.134385788C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003395.5,