rs119462985

Orientation

plus

Stabilized

plus

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

Make rs119462985(C;T)

Make rs119462985(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131518945

Gene	LOC105376301, POMT1

is a	snp
is	mentioned by
dbSNP	rs119462985
dbSNP (classic)	rs119462985
ClinGen	rs119462985
ebi	rs119462985
HLI	rs119462985
Exac	rs119462985
Gnomad	rs119462985
Varsome	rs119462985
LitVar	rs119462985
Map	rs119462985
PheGenI	rs119462985
Biobank	rs119462985
1000 genomes	rs119462985
hgdp	rs119462985
ensembl	rs119462985
geneview	rs119462985
scholar	rs119462985
google	rs119462985
pharmgkb	rs119462985
gwascentral	rs119462985
openSNP	rs119462985
23andMe	rs119462985
SNPshot	rs119462985
SNPdbe	rs119462985
MSV3d	rs119462985
GWAS Ctlg	rs119462985

Max Magnitude

0

OMIM	607423
Desc
Variant	0008
Related	also

ClinVar
Risk	rs119462985(G;G) rs119462985(T;T)
Alt	rs119462985(G;G) rs119462985(T;T)
Reference	Rs119462985(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	POMT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed	0
HGVS	NC_000009.11:g.134394332C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000003401.3, RCV000153046.2, RCV000174912.1,