rs727502840

Orientation

minus

Stabilized

minus

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

Make rs727502840(A;A)

Make rs727502840(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

237361137

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs727502840
dbSNP (classic)	rs727502840
ClinGen	rs727502840
ebi	rs727502840
HLI	rs727502840
Exac	rs727502840
Gnomad	rs727502840
Varsome	rs727502840
LitVar	rs727502840
Map	rs727502840
PheGenI	rs727502840
Biobank	rs727502840
1000 genomes	rs727502840
hgdp	rs727502840
ensembl	rs727502840
geneview	rs727502840
scholar	rs727502840
google	rs727502840
pharmgkb	rs727502840
gwascentral	rs727502840
openSNP	rs727502840
23andMe	rs727502840
SNPshot	rs727502840
SNPdbe	rs727502840
MSV3d	rs727502840
GWAS Ctlg	rs727502840

Max Magnitude

0

ClinVar
Risk	rs727502840(A;A)
Alt	rs727502840(A;A)
Reference	Rs727502840(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy
Variation	info
Gene	COL6A3
CLNDBN	Congenital muscular dystrophy
Reversed	1
HGVS	NC_000002.11:g.238269780C>T
CLNSRC
CLNACC	RCV000149963.1,