rs387906608

Orientation

plus

Stabilized

plus

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

Make rs387906608(A;A)

Make rs387906608(A;C)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46132118

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs387906608
dbSNP (classic)	rs387906608
ClinGen	rs387906608
ebi	rs387906608
HLI	rs387906608
Exac	rs387906608
Gnomad	rs387906608
Varsome	rs387906608
LitVar	rs387906608
Map	rs387906608
PheGenI	rs387906608
Biobank	rs387906608
1000 genomes	rs387906608
hgdp	rs387906608
ensembl	rs387906608
geneview	rs387906608
scholar	rs387906608
google	rs387906608
pharmgkb	rs387906608
gwascentral	rs387906608
openSNP	rs387906608
23andMe	rs387906608
SNPshot	rs387906608
SNPdbe	rs387906608
MSV3d	rs387906608
GWAS Ctlg	rs387906608

Max Magnitude

0

ClinVar
Risk	rs387906608(A;A) rs387906608(T;T)
Alt	rs387906608(A;A) rs387906608(T;T)
Reference	Rs387906608(C;C)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 not specified
Variation	info
Gene	COL6A2
CLNDBN	Ullrich congenital muscular dystrophy 1 not specified
Reversed	0
HGVS	NC_000021.8:g.47552032C>A; NC_000021.8:g.47552032C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022489.29, RCV000278725.1,