rs886042883

Orientation

plus

Stabilized

plus

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

Chromosome

2

Position

237359205

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs886042883
dbSNP (classic)	rs886042883
ClinGen	rs886042883
ebi	rs886042883
HLI	rs886042883
Exac	rs886042883
Gnomad	rs886042883
Varsome	rs886042883
LitVar	rs886042883
Map	rs886042883
PheGenI	rs886042883
Biobank	rs886042883
1000 genomes	rs886042883
hgdp	rs886042883
ensembl	rs886042883
geneview	rs886042883
scholar	rs886042883
google	rs886042883
pharmgkb	rs886042883
gwascentral	rs886042883
openSNP	rs886042883
23andMe	rs886042883
SNPshot	rs886042883
SNPdbe	rs886042883
MSV3d	rs886042883
GWAS Ctlg	rs886042883

Max Magnitude

0

ClinVar
Risk	rs886042883(A;A) rs886042883(T;T)
Alt	rs886042883(A;A) rs886042883(T;T)
Reference	Rs886042883(C;C)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000002.11:g.238267848C>A; NC_000002.11:g.238267848C>T
CLNSRC
CLNACC	RCV000305531.1, RCV000319175.1, RCV000373756.1,