rs119462986

Orientation

plus

Stabilized

plus

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

Make rs119462986(C;C)

Make rs119462986(C;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131521351

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs119462986
dbSNP (classic)	rs119462986
ClinGen	rs119462986
ebi	rs119462986
HLI	rs119462986
Exac	rs119462986
Gnomad	rs119462986
Varsome	rs119462986
LitVar	rs119462986
Map	rs119462986
PheGenI	rs119462986
Biobank	rs119462986
1000 genomes	rs119462986
hgdp	rs119462986
ensembl	rs119462986
geneview	rs119462986
scholar	rs119462986
google	rs119462986
pharmgkb	rs119462986
gwascentral	rs119462986
openSNP	rs119462986
23andMe	rs119462986
SNPshot	rs119462986
SNPdbe	rs119462986
MSV3d	rs119462986
GWAS Ctlg	rs119462986

Max Magnitude

0

OMIM	607423
Desc
Variant	0009
Related	also

ClinVar
Risk	rs119462986(C;C)
Alt	rs119462986(C;C)
Reference	Rs119462986(G;G)
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.134396738G>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003402.3, RCV000081485.3, RCV000175324.1,