rs119462983

Orientation

plus

Stabilized

plus

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

Make rs119462983(A;A)

Make rs119462983(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131506184

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs119462983
dbSNP (classic)	rs119462983
ClinGen	rs119462983
ebi	rs119462983
HLI	rs119462983
Exac	rs119462983
Gnomad	rs119462983
Varsome	rs119462983
LitVar	rs119462983
Map	rs119462983
PheGenI	rs119462983
Biobank	rs119462983
1000 genomes	rs119462983
hgdp	rs119462983
ensembl	rs119462983
geneview	rs119462983
scholar	rs119462983
google	rs119462983
pharmgkb	rs119462983
gwascentral	rs119462983
openSNP	rs119462983
23andMe	rs119462983
SNPshot	rs119462983
SNPdbe	rs119462983
MSV3d	rs119462983
GWAS Ctlg	rs119462983

Max Magnitude

0

OMIM	607423
Desc
Variant	0006
Related	also

ClinVar
Risk	rs119462983(A;A)
Alt	rs119462983(A;A)
Reference	Rs119462983(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation	info
Gene	POMT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Reversed	0
HGVS	NC_000009.11:g.134381571G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003400.4,