rs778129335

Orientation

plus

Stabilized

plus

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

Make rs778129335(-;-)

Make rs778129335(-;AT)

Reference

GRCh38.p7 38.3/149

Chromosome

21

Position

46126099

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs778129335
dbSNP (classic)	rs778129335
ClinGen	rs778129335
ebi	rs778129335
HLI	rs778129335
Exac	rs778129335
Gnomad	rs778129335
Varsome	rs778129335
LitVar	rs778129335
Map	rs778129335
PheGenI	rs778129335
Biobank	rs778129335
1000 genomes	rs778129335
hgdp	rs778129335
ensembl	rs778129335
geneview	rs778129335
scholar	rs778129335
google	rs778129335
pharmgkb	rs778129335
gwascentral	rs778129335
openSNP	rs778129335
23andMe	rs778129335
SNPshot	rs778129335
SNPdbe	rs778129335
MSV3d	rs778129335
GWAS Ctlg	rs778129335

Max Magnitude

0

ClinVar
Risk	rs778129335(-;-)
Alt	rs778129335(-;-)
Reference	Rs778129335(AT;AT)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A2
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47546013_47546014delAT
CLNSRC
CLNACC	RCV000342084.1,