rs2270669

Orientation

minus

Stabilized

minus

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

Make rs2270669(C;C)

Make rs2270669(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

237334821

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs2270669
dbSNP (classic)	rs2270669
ClinGen	rs2270669
ebi	rs2270669
HLI	rs2270669
Exac	rs2270669
Gnomad	rs2270669
Varsome	rs2270669
LitVar	rs2270669
Map	rs2270669
PheGenI	rs2270669
Biobank	rs2270669
1000 genomes	rs2270669
hgdp	rs2270669
ensembl	rs2270669
geneview	rs2270669
scholar	rs2270669
google	rs2270669
pharmgkb	rs2270669
gwascentral	rs2270669
openSNP	rs2270669
23andMe	rs2270669
SNPshot	rs2270669
SNPdbe	rs2270669
MSV3d	rs2270669
GWAS Ctlg	rs2270669

GMAF

0.1965

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

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

ClinVar
Risk	rs2270669(C;C)
Alt	rs2270669(C;C)
Reference	Rs2270669(G;G)
Significance	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.238243464C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000081019.7, RCV000261014.1,