rs144830948

Orientation

plus

Stabilized

plus

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

Make rs144830948(A;A)

Make rs144830948(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46132050

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs144830948
dbSNP (classic)	rs144830948
ClinGen	rs144830948
ebi	rs144830948
HLI	rs144830948
Exac	rs144830948
Gnomad	rs144830948
Varsome	rs144830948
LitVar	rs144830948
Map	rs144830948
PheGenI	rs144830948
Biobank	rs144830948
1000 genomes	rs144830948
hgdp	rs144830948
ensembl	rs144830948
geneview	rs144830948
scholar	rs144830948
google	rs144830948
pharmgkb	rs144830948
gwascentral	rs144830948
openSNP	rs144830948
23andMe	rs144830948
SNPshot	rs144830948
SNPdbe	rs144830948
MSV3d	rs144830948
GWAS Ctlg	rs144830948

Max Magnitude

0

ClinVar
Risk	rs144830948(A;A)
Alt	rs144830948(A;A)
Reference	Rs144830948(G;G)
Significance	Other
Disease	not specified Myosclerosis Collagen VI-related myopathy
Variation	info
Gene	COL6A2
CLNDBN	not specified Myosclerosis Collagen VI-related myopathy
Reversed	0
HGVS	NC_000021.8:g.47551964G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000149936.3, RCV000259316.1, RCV000370345.1,