rs886039905

Orientation

plus

Stabilized

plus

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

Make rs886039905(-;T)

Make rs886039905(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

21

Position

46125855

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs886039905
dbSNP (classic)	rs886039905
ClinGen	rs886039905
ebi	rs886039905
HLI	rs886039905
Exac	rs886039905
Gnomad	rs886039905
Varsome	rs886039905
LitVar	rs886039905
Map	rs886039905
PheGenI	rs886039905
Biobank	rs886039905
1000 genomes	rs886039905
hgdp	rs886039905
ensembl	rs886039905
geneview	rs886039905
scholar	rs886039905
google	rs886039905
pharmgkb	rs886039905
gwascentral	rs886039905
openSNP	rs886039905
23andMe	rs886039905
SNPshot	rs886039905
SNPdbe	rs886039905
MSV3d	rs886039905
GWAS Ctlg	rs886039905

Max Magnitude

0

ClinVar
Risk	rs886039905(T;T)
Alt	rs886039905(T;T)
Reference	Rs886039905(-;-)
Significance	Probable-Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A2
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47545769dupT
CLNSRC
CLNACC	RCV000256480.1,