rs727502833

Orientation

plus

Stabilized

plus

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

Make rs727502833(A;A)

Make rs727502833(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46122117

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs727502833
dbSNP (classic)	rs727502833
ClinGen	rs727502833
ebi	rs727502833
HLI	rs727502833
Exac	rs727502833
Gnomad	rs727502833
Varsome	rs727502833
LitVar	rs727502833
Map	rs727502833
PheGenI	rs727502833
Biobank	rs727502833
1000 genomes	rs727502833
hgdp	rs727502833
ensembl	rs727502833
geneview	rs727502833
scholar	rs727502833
google	rs727502833
pharmgkb	rs727502833
gwascentral	rs727502833
openSNP	rs727502833
23andMe	rs727502833
SNPshot	rs727502833
SNPdbe	rs727502833
MSV3d	rs727502833
GWAS Ctlg	rs727502833

Max Magnitude

0

ClinVar
Risk	rs727502833(A;A)
Alt	rs727502833(A;A)
Reference	Rs727502833(G;G)
Significance	Probable-Pathogenic
Disease	Congenital muscular dystrophy
Variation	info
Gene	COL6A2
CLNDBN	Congenital muscular dystrophy
Reversed	0
HGVS	NC_000021.8:g.47542031G>A
CLNSRC
CLNACC	RCV000149941.1,