rs398124243

Orientation

plus

Stabilized

plus

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

Make rs398124243(AG;TC)

Make rs398124243(TC;TC)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131515464

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs398124243
dbSNP (classic)	rs398124243
ClinGen	rs398124243
ebi	rs398124243
HLI	rs398124243
Exac	rs398124243
Gnomad	rs398124243
Varsome	rs398124243
LitVar	rs398124243
Map	rs398124243
PheGenI	rs398124243
Biobank	rs398124243
1000 genomes	rs398124243
hgdp	rs398124243
ensembl	rs398124243
geneview	rs398124243
scholar	rs398124243
google	rs398124243
pharmgkb	rs398124243
gwascentral	rs398124243
openSNP	rs398124243
23andMe	rs398124243
SNPshot	rs398124243
SNPdbe	rs398124243
MSV3d	rs398124243
GWAS Ctlg	rs398124243

Max Magnitude

0

ClinVar
Risk	rs398124243(TC;TC)
Alt	rs398124243(TC;TC)
Reference	Rs398124243(AG;AG)
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.134390851_134390852delAGinsTC
CLNSRC	ClinVar
CLNACC	RCV000081479.3, RCV000174566.1,