rs28941782

Orientation

plus

Stabilized

plus

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

Make rs28941782(A;A)

Make rs28941782(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131506217

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs28941782
dbSNP (classic)	rs28941782
ClinGen	rs28941782
ebi	rs28941782
HLI	rs28941782
Exac	rs28941782
Gnomad	rs28941782
Varsome	rs28941782
LitVar	rs28941782
Map	rs28941782
PheGenI	rs28941782
Biobank	rs28941782
1000 genomes	rs28941782
hgdp	rs28941782
ensembl	rs28941782
geneview	rs28941782
scholar	rs28941782
google	rs28941782
pharmgkb	rs28941782
gwascentral	rs28941782
openSNP	rs28941782
23andMe	rs28941782
SNPshot	rs28941782
SNPdbe	rs28941782
MSV3d	rs28941782
GWAS Ctlg	rs28941782

Max Magnitude

0

OMIM	607423
Desc	WALKER-WARBURG SYNDROME
Variant	0001
Related	also

ClinVar
Risk	rs28941782(A;A)
Alt	rs28941782(A;A)
Reference	Rs28941782(G;G)
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.134381604G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003394.5,