rs398123640

Orientation

plus

Stabilized

plus

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

Make rs398123640(A;A)

Make rs398123640(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

45989093

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs398123640
dbSNP (classic)	rs398123640
ClinGen	rs398123640
ebi	rs398123640
HLI	rs398123640
Exac	rs398123640
Gnomad	rs398123640
Varsome	rs398123640
LitVar	rs398123640
Map	rs398123640
PheGenI	rs398123640
Biobank	rs398123640
1000 genomes	rs398123640
hgdp	rs398123640
ensembl	rs398123640
geneview	rs398123640
scholar	rs398123640
google	rs398123640
pharmgkb	rs398123640
gwascentral	rs398123640
openSNP	rs398123640
23andMe	rs398123640
SNPshot	rs398123640
SNPdbe	rs398123640
MSV3d	rs398123640
GWAS Ctlg	rs398123640

Max Magnitude

0

ClinVar
Risk	rs398123640(A;A)
Alt	rs398123640(A;A)
Reference	Rs398123640(G;G)
Significance	Probable-Pathogenic
Disease	not specified EMG abnormality Limb-girdle muscle weakness Motor delay
Variation	info
Gene	COL6A1
CLNDBN	not specified EMG abnormality Limb-girdle muscle weakness Motor delay
Reversed	0
HGVS	NC_000021.8:g.47409007G>A
CLNSRC
CLNACC	RCV000079827.4, RCV000415255.1,