rs201879417

Orientation

plus

Stabilized

plus

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

Make rs201879417(A;A)

Make rs201879417(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46125782

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs201879417
dbSNP (classic)	rs201879417
ClinGen	rs201879417
ebi	rs201879417
HLI	rs201879417
Exac	rs201879417
Gnomad	rs201879417
Varsome	rs201879417
LitVar	rs201879417
Map	rs201879417
PheGenI	rs201879417
Biobank	rs201879417
1000 genomes	rs201879417
hgdp	rs201879417
ensembl	rs201879417
geneview	rs201879417
scholar	rs201879417
google	rs201879417
pharmgkb	rs201879417
gwascentral	rs201879417
openSNP	rs201879417
23andMe	rs201879417
SNPshot	rs201879417
SNPdbe	rs201879417
MSV3d	rs201879417
GWAS Ctlg	rs201879417

Max Magnitude

0

ClinVar
Risk	rs201879417(A;A) rs201879417(T;T)
Alt	rs201879417(A;A) rs201879417(T;T)
Reference	Rs201879417(C;C)
Significance	Probable-non-pathogenic
Disease	not specified Myosclerosis Collagen VI-related myopathy not provided
Variation	info
Gene	COL6A2
CLNDBN	not specified Myosclerosis Collagen VI-related myopathy not provided
Reversed	0
HGVS	NC_000021.8:g.47545696C>A
CLNSRC	HGMD
CLNACC	RCV000235163.3, RCV000259240.1, RCV000300588.1, RCV000415855.1,