rs398124244

Orientation

plus

Stabilized

plus

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

Make rs398124244(A;C)

Make rs398124244(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

131506123

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs398124244
dbSNP (classic)	rs398124244
ClinGen	rs398124244
ebi	rs398124244
HLI	rs398124244
Exac	rs398124244
Gnomad	rs398124244
Varsome	rs398124244
LitVar	rs398124244
Map	rs398124244
PheGenI	rs398124244
Biobank	rs398124244
1000 genomes	rs398124244
hgdp	rs398124244
ensembl	rs398124244
geneview	rs398124244
scholar	rs398124244
google	rs398124244
pharmgkb	rs398124244
gwascentral	rs398124244
openSNP	rs398124244
23andMe	rs398124244
SNPshot	rs398124244
SNPdbe	rs398124244
MSV3d	rs398124244
GWAS Ctlg	rs398124244

Max Magnitude

0

ClinVar
Risk	rs398124244(C;C)
Alt	rs398124244(C;C)
Reference	Rs398124244(A;A)
Significance	Probable-Pathogenic
Disease	not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	POMT1
CLNDBN	not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed	0
HGVS	NC_000009.11:g.134381510A>C
CLNSRC
CLNACC	RCV000081481.3, RCV000177268.1,