rs727502832

Orientation

plus

Stabilized

plus

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

Make rs727502832(G;T)

Make rs727502832(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46116387

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs727502832
dbSNP (classic)	rs727502832
ClinGen	rs727502832
ebi	rs727502832
HLI	rs727502832
Exac	rs727502832
Gnomad	rs727502832
Varsome	rs727502832
LitVar	rs727502832
Map	rs727502832
PheGenI	rs727502832
Biobank	rs727502832
1000 genomes	rs727502832
hgdp	rs727502832
ensembl	rs727502832
geneview	rs727502832
scholar	rs727502832
google	rs727502832
pharmgkb	rs727502832
gwascentral	rs727502832
openSNP	rs727502832
23andMe	rs727502832
SNPshot	rs727502832
SNPdbe	rs727502832
MSV3d	rs727502832
GWAS Ctlg	rs727502832

Max Magnitude

0

ClinVar
Risk	rs727502832(T;T)
Alt	rs727502832(T;T)
Reference	Rs727502832(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy
Variation	info
Gene	COL6A2
CLNDBN	Congenital muscular dystrophy
Reversed	0
HGVS	NC_000021.8:g.47536301G>T
CLNSRC
CLNACC	RCV000149940.1,