rs727502825

Orientation

plus

Stabilized

plus

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

Make rs727502825(A;G)

Make rs727502825(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46111981

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs727502825
dbSNP (classic)	rs727502825
ClinGen	rs727502825
ebi	rs727502825
HLI	rs727502825
Exac	rs727502825
Gnomad	rs727502825
Varsome	rs727502825
LitVar	rs727502825
Map	rs727502825
PheGenI	rs727502825
Biobank	rs727502825
1000 genomes	rs727502825
hgdp	rs727502825
ensembl	rs727502825
geneview	rs727502825
scholar	rs727502825
google	rs727502825
pharmgkb	rs727502825
gwascentral	rs727502825
openSNP	rs727502825
23andMe	rs727502825
SNPshot	rs727502825
SNPdbe	rs727502825
MSV3d	rs727502825
GWAS Ctlg	rs727502825

Max Magnitude

0

ClinVar
Risk	rs727502825(G;G)
Alt	rs727502825(G;G)
Reference	Rs727502825(A;A)
Significance	Probable-Pathogenic
Disease	Congenital muscular dystrophy
Variation	info
Gene	COL6A2
CLNDBN	Congenital muscular dystrophy
Reversed	0
HGVS	NC_000021.8:g.47531895A>G
CLNSRC
CLNACC	RCV000149924.1,