rs398122821

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GTCATC;GTCATC)	0	common in clinvar
(TCGTCA;TCGTCA)	0	common in clinvar

Make rs398122821(-;-)

Make rs398122821(-;GTCATC)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46125503

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs398122821
dbSNP (classic)	rs398122821
ClinGen	rs398122821
ebi	rs398122821
HLI	rs398122821
Exac	rs398122821
Gnomad	rs398122821
Varsome	rs398122821
LitVar	rs398122821
Map	rs398122821
PheGenI	rs398122821
Biobank	rs398122821
1000 genomes	rs398122821
hgdp	rs398122821
ensembl	rs398122821
geneview	rs398122821
scholar	rs398122821
google	rs398122821
pharmgkb	rs398122821
gwascentral	rs398122821
openSNP	rs398122821
23andMe	rs398122821
SNPshot	rs398122821
SNPdbe	rs398122821
MSV3d	rs398122821
GWAS Ctlg	rs398122821

Max Magnitude

0

ClinVar
Risk	rs398122821(-;-)
Alt	rs398122821(-;-)
Reference	Rs398122821(TCGTCA;TCGTCA)
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.47545417_47545422delGTCATC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030599.29,