rs727502827

Orientation

plus

Stabilized

plus

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

Make rs727502827(A;A)

Make rs727502827(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46116010

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs727502827
dbSNP (classic)	rs727502827
ClinGen	rs727502827
ebi	rs727502827
HLI	rs727502827
Exac	rs727502827
Gnomad	rs727502827
Varsome	rs727502827
LitVar	rs727502827
Map	rs727502827
PheGenI	rs727502827
Biobank	rs727502827
1000 genomes	rs727502827
hgdp	rs727502827
ensembl	rs727502827
geneview	rs727502827
scholar	rs727502827
google	rs727502827
pharmgkb	rs727502827
gwascentral	rs727502827
openSNP	rs727502827
23andMe	rs727502827
SNPshot	rs727502827
SNPdbe	rs727502827
MSV3d	rs727502827
GWAS Ctlg	rs727502827

Max Magnitude

0

ClinVar
Risk	rs727502827(A;A) rs727502827(T;T)
Alt	rs727502827(A;A) rs727502827(T;T)
Reference	Rs727502827(G;G)
Significance	Probable-Pathogenic
Disease	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A2
CLNDBN	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47535924G>T
CLNSRC
CLNACC	RCV000300421.1, RCV000352922.1,