rs878854398

Orientation

plus

Stabilized

plus

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

Make rs878854398(-;-)

Make rs878854398(-;A)

Reference

GRCh38.p7 38.3/149

Chromosome

21

Position

45997447

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs878854398
dbSNP (classic)	rs878854398
ClinGen	rs878854398
ebi	rs878854398
HLI	rs878854398
Exac	rs878854398
Gnomad	rs878854398
Varsome	rs878854398
LitVar	rs878854398
Map	rs878854398
PheGenI	rs878854398
Biobank	rs878854398
1000 genomes	rs878854398
hgdp	rs878854398
ensembl	rs878854398
geneview	rs878854398
scholar	rs878854398
google	rs878854398
pharmgkb	rs878854398
gwascentral	rs878854398
openSNP	rs878854398
23andMe	rs878854398
SNPshot	rs878854398
SNPdbe	rs878854398
MSV3d	rs878854398
GWAS Ctlg	rs878854398

Max Magnitude

0

ClinVar
Risk	rs878854398(-;-)
Alt	rs878854398(-;-)
Reference	Rs878854398(A;A)
Significance	Pathogenic
Disease	not specified not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A1
CLNDBN	not specified not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47417361delA
CLNSRC
CLNACC	RCV000228165.1, RCV000255364.1, RCV000269787.1, RCV000364296.1,