rs149682171

Orientation

plus

Stabilized

plus

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

Make rs149682171(C;T)

Make rs149682171(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

131522113

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs149682171
dbSNP (classic)	rs149682171
ClinGen	rs149682171
ebi	rs149682171
HLI	rs149682171
Exac	rs149682171
Gnomad	rs149682171
Varsome	rs149682171
LitVar	rs149682171
Map	rs149682171
PheGenI	rs149682171
Biobank	rs149682171
1000 genomes	rs149682171
hgdp	rs149682171
ensembl	rs149682171
geneview	rs149682171
scholar	rs149682171
google	rs149682171
pharmgkb	rs149682171
gwascentral	rs149682171
openSNP	rs149682171
23andMe	rs149682171
SNPshot	rs149682171
SNPdbe	rs149682171
MSV3d	rs149682171
GWAS Ctlg	rs149682171

Max Magnitude

0

ClinVar
Risk	rs149682171(T;T)
Alt	rs149682171(T;T)
Reference	Rs149682171(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.134397500C>T
CLNSRC
CLNACC	RCV000175455.1,