rs1131296

Orientation

minus

Stabilized

minus

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

Make rs1131296(C;T)

Make rs1131296(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

237334649

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs1131296
dbSNP (classic)	rs1131296
ClinGen	rs1131296
ebi	rs1131296
HLI	rs1131296
Exac	rs1131296
Gnomad	rs1131296
Varsome	rs1131296
LitVar	rs1131296
Map	rs1131296
PheGenI	rs1131296
Biobank	rs1131296
1000 genomes	rs1131296
hgdp	rs1131296
ensembl	rs1131296
geneview	rs1131296
scholar	rs1131296
google	rs1131296
pharmgkb	rs1131296
gwascentral	rs1131296
openSNP	rs1131296
23andMe	rs1131296
SNPshot	rs1131296
SNPdbe	rs1131296
MSV3d	rs1131296
GWAS Ctlg	rs1131296

GMAF

0.3792

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs1131296(T;T)
Alt	rs1131296(T;T)
Reference	Rs1131296(C;C)
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.238243292G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000081023.7, RCV000365788.1,