rs387906607

Orientation

plus

Stabilized

plus

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

Make rs387906607(A;A)

Make rs387906607(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46125518

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs387906607
dbSNP (classic)	rs387906607
ClinGen	rs387906607
ebi	rs387906607
HLI	rs387906607
Exac	rs387906607
Gnomad	rs387906607
Varsome	rs387906607
LitVar	rs387906607
Map	rs387906607
PheGenI	rs387906607
Biobank	rs387906607
1000 genomes	rs387906607
hgdp	rs387906607
ensembl	rs387906607
geneview	rs387906607
scholar	rs387906607
google	rs387906607
pharmgkb	rs387906607
gwascentral	rs387906607
openSNP	rs387906607
23andMe	rs387906607
SNPshot	rs387906607
SNPdbe	rs387906607
MSV3d	rs387906607
GWAS Ctlg	rs387906607

Max Magnitude

0

ClinVar
Risk	rs387906607(A;A)
Alt	rs387906607(A;A)
Reference	Rs387906607(G;G)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A2
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47545432G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022488.29,