rs727502828

Orientation

plus

Stabilized

plus

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

Make rs727502828(A;A)

Make rs727502828(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46116027

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs727502828
dbSNP (classic)	rs727502828
ClinGen	rs727502828
ebi	rs727502828
HLI	rs727502828
Exac	rs727502828
Gnomad	rs727502828
Varsome	rs727502828
LitVar	rs727502828
Map	rs727502828
PheGenI	rs727502828
Biobank	rs727502828
1000 genomes	rs727502828
hgdp	rs727502828
ensembl	rs727502828
geneview	rs727502828
scholar	rs727502828
google	rs727502828
pharmgkb	rs727502828
gwascentral	rs727502828
openSNP	rs727502828
23andMe	rs727502828
SNPshot	rs727502828
SNPdbe	rs727502828
MSV3d	rs727502828
GWAS Ctlg	rs727502828

Max Magnitude

0

ClinVar
Risk	rs727502828(A;A)
Alt	rs727502828(A;A)
Reference	Rs727502828(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy
Variation	info
Gene	COL6A2
CLNDBN	Congenital muscular dystrophy
Reversed	0
HGVS	NC_000021.8:g.47535941G>A
CLNSRC
CLNACC	RCV000149927.1,