rs267606960

Orientation

minus

Stabilized

minus

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

Make rs267606960(A;A)

Make rs267606960(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46192168

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs267606960
dbSNP (classic)	rs267606960
ClinGen	rs267606960
ebi	rs267606960
HLI	rs267606960
Exac	rs267606960
Gnomad	rs267606960
Varsome	rs267606960
LitVar	rs267606960
Map	rs267606960
PheGenI	rs267606960
Biobank	rs267606960
1000 genomes	rs267606960
hgdp	rs267606960
ensembl	rs267606960
geneview	rs267606960
scholar	rs267606960
google	rs267606960
pharmgkb	rs267606960
gwascentral	rs267606960
openSNP	rs267606960
23andMe	rs267606960
SNPshot	rs267606960
SNPdbe	rs267606960
MSV3d	rs267606960
GWAS Ctlg	rs267606960

Max Magnitude

0

ClinVar
Risk	rs267606960(A;A)
Alt	rs267606960(A;A)
Reference	Rs267606960(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46657840C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004207.3, RCV000411094.1,