rs797045479

Orientation

minus

Stabilized

minus

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

Make rs797045479(C;T)

Make rs797045479(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

237361150

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs797045479
dbSNP (classic)	rs797045479
ClinGen	rs797045479
ebi	rs797045479
HLI	rs797045479
Exac	rs797045479
Gnomad	rs797045479
Varsome	rs797045479
LitVar	rs797045479
Map	rs797045479
PheGenI	rs797045479
Biobank	rs797045479
1000 genomes	rs797045479
hgdp	rs797045479
ensembl	rs797045479
geneview	rs797045479
scholar	rs797045479
google	rs797045479
pharmgkb	rs797045479
gwascentral	rs797045479
openSNP	rs797045479
23andMe	rs797045479
SNPshot	rs797045479
SNPdbe	rs797045479
MSV3d	rs797045479
GWAS Ctlg	rs797045479

Max Magnitude

0

ClinVar
Risk	rs797045479(T;T)
Alt	rs797045479(T;T)
Reference	Rs797045479(C;C)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	COL6A3
CLNDBN	Myopathy
Reversed	1
HGVS	NC_000002.11:g.238269793G>A
CLNSRC
CLNACC	RCV000192833.1,