rs2270668

Orientation

minus

Stabilized

minus

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

Make rs2270668(A;G)

Make rs2270668(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

237334838

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs2270668
dbSNP (classic)	rs2270668
ClinGen	rs2270668
ebi	rs2270668
HLI	rs2270668
Exac	rs2270668
Gnomad	rs2270668
Varsome	rs2270668
LitVar	rs2270668
Map	rs2270668
PheGenI	rs2270668
Biobank	rs2270668
1000 genomes	rs2270668
hgdp	rs2270668
ensembl	rs2270668
geneview	rs2270668
scholar	rs2270668
google	rs2270668
pharmgkb	rs2270668
gwascentral	rs2270668
openSNP	rs2270668
23andMe	rs2270668
SNPshot	rs2270668
SNPdbe	rs2270668
MSV3d	rs2270668
GWAS Ctlg	rs2270668

GMAF

0.004132

Max Magnitude

0

[PMID 23626599] Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669

ClinVar
Risk	rs2270668(G;G)
Alt	rs2270668(G;G)
Reference	Rs2270668(A;A)
Significance	Probable-non-pathogenic
Disease	not specified Collagen VI-related myopathy
Variation	info
Gene	COL6A3
CLNDBN	not specified Collagen VI-related myopathy
Reversed	1
HGVS	NC_000002.11:g.238243481T>C
CLNSRC
CLNACC	RCV000293957.1, RCV000318494.1,