rs267607210

Orientation

minus

Stabilized

minus

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

Make rs267607210(C;T)

Make rs267607210(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

33384205

Gene	LARGE, LARGE1

is a	snp
is	mentioned by
dbSNP	rs267607210
dbSNP (classic)	rs267607210
ClinGen	rs267607210
ebi	rs267607210
HLI	rs267607210
Exac	rs267607210
Gnomad	rs267607210
Varsome	rs267607210
LitVar	rs267607210
Map	rs267607210
PheGenI	rs267607210
Biobank	rs267607210
1000 genomes	rs267607210
hgdp	rs267607210
ensembl	rs267607210
geneview	rs267607210
scholar	rs267607210
google	rs267607210
pharmgkb	rs267607210
gwascentral	rs267607210
openSNP	rs267607210
23andMe	rs267607210
SNPshot	rs267607210
SNPdbe	rs267607210
MSV3d	rs267607210
GWAS Ctlg	rs267607210

Max Magnitude

0

ClinVar
Risk	rs267607210(T;T)
Alt	rs267607210(T;T)
Reference	Rs267607210(C;C)
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.33780191G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006599.4,