rs797045478

Orientation

plus

Stabilized

plus

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

Make rs797045478(A;A)

Make rs797045478(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

46116045

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs797045478
dbSNP (classic)	rs797045478
ClinGen	rs797045478
ebi	rs797045478
HLI	rs797045478
Exac	rs797045478
Gnomad	rs797045478
Varsome	rs797045478
LitVar	rs797045478
Map	rs797045478
PheGenI	rs797045478
Biobank	rs797045478
1000 genomes	rs797045478
hgdp	rs797045478
ensembl	rs797045478
geneview	rs797045478
scholar	rs797045478
google	rs797045478
pharmgkb	rs797045478
gwascentral	rs797045478
openSNP	rs797045478
23andMe	rs797045478
SNPshot	rs797045478
SNPdbe	rs797045478
MSV3d	rs797045478
GWAS Ctlg	rs797045478

Max Magnitude

0

ClinVar
Risk	rs797045478(A;A)
Alt	rs797045478(A;A)
Reference	Rs797045478(G;G)
Significance	Probable-Pathogenic
Disease	Myopathy
Variation	info
Gene	COL6A2
CLNDBN	Myopathy
Reversed	0
HGVS	NC_000021.8:g.47535959G>A
CLNSRC
CLNACC	RCV000193638.1,