rs794727060

Orientation

plus

Stabilized

plus

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

Make rs794727060(C;C)

Make rs794727060(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

45990286

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs794727060
dbSNP (classic)	rs794727060
ClinGen	rs794727060
ebi	rs794727060
HLI	rs794727060
Exac	rs794727060
Gnomad	rs794727060
Varsome	rs794727060
LitVar	rs794727060
Map	rs794727060
PheGenI	rs794727060
Biobank	rs794727060
1000 genomes	rs794727060
hgdp	rs794727060
ensembl	rs794727060
geneview	rs794727060
scholar	rs794727060
google	rs794727060
pharmgkb	rs794727060
gwascentral	rs794727060
openSNP	rs794727060
23andMe	rs794727060
SNPshot	rs794727060
SNPdbe	rs794727060
MSV3d	rs794727060
GWAS Ctlg	rs794727060

Max Magnitude

0

ClinVar
Risk	rs794727060(C;C)
Alt	rs794727060(C;C)
Reference	Rs794727060(T;T)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A1
CLNDBN	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47410200T>C
CLNSRC
CLNACC	RCV000174302.1, RCV000174303.1,