rs797044458

Orientation

plus

Stabilized

plus

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

Make rs797044458(-;-)

Make rs797044458(-;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

45997703

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs797044458
dbSNP (classic)	rs797044458
ClinGen	rs797044458
ebi	rs797044458
HLI	rs797044458
Exac	rs797044458
Gnomad	rs797044458
Varsome	rs797044458
LitVar	rs797044458
Map	rs797044458
PheGenI	rs797044458
Biobank	rs797044458
1000 genomes	rs797044458
hgdp	rs797044458
ensembl	rs797044458
geneview	rs797044458
scholar	rs797044458
google	rs797044458
pharmgkb	rs797044458
gwascentral	rs797044458
openSNP	rs797044458
23andMe	rs797044458
SNPshot	rs797044458
SNPdbe	rs797044458
MSV3d	rs797044458
GWAS Ctlg	rs797044458

Max Magnitude

0

ClinVar
Risk	rs797044458(-;-)
Alt	rs797044458(-;-)
Reference	Rs797044458(G;G)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47417617delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018718.32,