rs797045477

Orientation

plus

Stabilized

plus

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

Make rs797045477(A;G)

Make rs797045477(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

45990771

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs797045477
dbSNP (classic)	rs797045477
ClinGen	rs797045477
ebi	rs797045477
HLI	rs797045477
Exac	rs797045477
Gnomad	rs797045477
Varsome	rs797045477
LitVar	rs797045477
Map	rs797045477
PheGenI	rs797045477
Biobank	rs797045477
1000 genomes	rs797045477
hgdp	rs797045477
ensembl	rs797045477
geneview	rs797045477
scholar	rs797045477
google	rs797045477
pharmgkb	rs797045477
gwascentral	rs797045477
openSNP	rs797045477
23andMe	rs797045477
SNPshot	rs797045477
SNPdbe	rs797045477
MSV3d	rs797045477
GWAS Ctlg	rs797045477

Max Magnitude

0

ClinVar
Risk	rs797045477(G;G)
Alt	rs797045477(G;G)
Reference	Rs797045477(A;A)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	COL6A1
CLNDBN	Myopathy
Reversed	0
HGVS	NC_000021.8:g.47410685A>G
CLNSRC
CLNACC	RCV000194464.1,