rs727502839

Orientation

minus

Stabilized

minus

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

Make rs727502839(G;T)

Make rs727502839(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

237363374

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs727502839
dbSNP (classic)	rs727502839
ClinGen	rs727502839
ebi	rs727502839
HLI	rs727502839
Exac	rs727502839
Gnomad	rs727502839
Varsome	rs727502839
LitVar	rs727502839
Map	rs727502839
PheGenI	rs727502839
Biobank	rs727502839
1000 genomes	rs727502839
hgdp	rs727502839
ensembl	rs727502839
geneview	rs727502839
scholar	rs727502839
google	rs727502839
pharmgkb	rs727502839
gwascentral	rs727502839
openSNP	rs727502839
23andMe	rs727502839
SNPshot	rs727502839
SNPdbe	rs727502839
MSV3d	rs727502839
GWAS Ctlg	rs727502839

Max Magnitude

0

ClinVar
Risk	rs727502839(T;T)
Alt	rs727502839(T;T)
Reference	Rs727502839(G;G)
Significance	Probable-Pathogenic
Disease	Congenital muscular dystrophy
Variation	info
Gene	COL6A3
CLNDBN	Congenital muscular dystrophy
Reversed	1
HGVS	NC_000002.11:g.238272017C>A
CLNSRC
CLNACC	RCV000149962.1,