rs397515332

Orientation

minus

Stabilized

minus

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

Make rs397515332(A;A)

Make rs397515332(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

237361138

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs397515332
dbSNP (classic)	rs397515332
ClinGen	rs397515332
ebi	rs397515332
HLI	rs397515332
Exac	rs397515332
Gnomad	rs397515332
Varsome	rs397515332
LitVar	rs397515332
Map	rs397515332
PheGenI	rs397515332
Biobank	rs397515332
1000 genomes	rs397515332
hgdp	rs397515332
ensembl	rs397515332
geneview	rs397515332
scholar	rs397515332
google	rs397515332
pharmgkb	rs397515332
gwascentral	rs397515332
openSNP	rs397515332
23andMe	rs397515332
SNPshot	rs397515332
SNPdbe	rs397515332
MSV3d	rs397515332
GWAS Ctlg	rs397515332

Max Magnitude

0

ClinVar
Risk	rs397515332(A;A) rs397515332(C;C)
Alt	rs397515332(A;A) rs397515332(C;C)
Reference	Rs397515332(G;G)
Significance	Probable-Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 not provided Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Ullrich congenital muscular dystrophy 1 not provided Bethlem myopathy 1
Reversed	1
HGVS	NC_000002.11:g.238269781C>G; NC_000002.11:g.238269781C>T
CLNSRC
CLNACC	RCV000329760.1, RCV000050245.5, RCV000315420.1, RCV000398869.1,