rs267607209

Orientation

minus

Stabilized

minus

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

Make rs267607209(C;C)

Make rs267607209(C;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

33304476

Gene	LARGE, LARGE1

is a	snp
is	mentioned by
dbSNP	rs267607209
dbSNP (classic)	rs267607209
ClinGen	rs267607209
ebi	rs267607209
HLI	rs267607209
Exac	rs267607209
Gnomad	rs267607209
Varsome	rs267607209
LitVar	rs267607209
Map	rs267607209
PheGenI	rs267607209
Biobank	rs267607209
1000 genomes	rs267607209
hgdp	rs267607209
ensembl	rs267607209
geneview	rs267607209
scholar	rs267607209
google	rs267607209
pharmgkb	rs267607209
gwascentral	rs267607209
openSNP	rs267607209
23andMe	rs267607209
SNPshot	rs267607209
SNPdbe	rs267607209
MSV3d	rs267607209
GWAS Ctlg	rs267607209

Max Magnitude

0

ClinVar
Risk	rs267607209(C;C)
Alt	rs267607209(C;C)
Reference	Rs267607209(T;T)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation	info
Gene	LARGE1 LARGE
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
Reversed	1
HGVS	NC_000022.10:g.33700462A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006597.4,