rs398123631

Orientation

plus

Stabilized

plus

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

Make rs398123631(A;A)

Make rs398123631(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45990827

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs398123631
dbSNP (classic)	rs398123631
ClinGen	rs398123631
ebi	rs398123631
HLI	rs398123631
Exac	rs398123631
Gnomad	rs398123631
Varsome	rs398123631
LitVar	rs398123631
Map	rs398123631
PheGenI	rs398123631
Biobank	rs398123631
1000 genomes	rs398123631
hgdp	rs398123631
ensembl	rs398123631
geneview	rs398123631
scholar	rs398123631
google	rs398123631
pharmgkb	rs398123631
gwascentral	rs398123631
openSNP	rs398123631
23andMe	rs398123631
SNPshot	rs398123631
SNPdbe	rs398123631
MSV3d	rs398123631
GWAS Ctlg	rs398123631

Max Magnitude

0

ClinVar
Risk	rs398123631(A;A)
Alt	rs398123631(A;A)
Reference	Rs398123631(G;G)
Significance	Pathogenic
Disease	Bethlem myopathy 1 not provided Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	Bethlem myopathy 1 not provided Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47410741G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018714.31, RCV000079739.4, RCV000174722.2,