rs146092501

Orientation

plus

Stabilized

plus

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

Make rs146092501(C;T)

Make rs146092501(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

237371861

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs146092501
dbSNP (classic)	rs146092501
ClinGen	rs146092501
ebi	rs146092501
HLI	rs146092501
Exac	rs146092501
Gnomad	rs146092501
Varsome	rs146092501
LitVar	rs146092501
Map	rs146092501
PheGenI	rs146092501
Biobank	rs146092501
1000 genomes	rs146092501
hgdp	rs146092501
ensembl	rs146092501
geneview	rs146092501
scholar	rs146092501
google	rs146092501
pharmgkb	rs146092501
gwascentral	rs146092501
openSNP	rs146092501
23andMe	rs146092501
SNPshot	rs146092501
SNPdbe	rs146092501
MSV3d	rs146092501
GWAS Ctlg	rs146092501

Max Magnitude

0

ClinVar
Risk	rs146092501(T;T)
Alt	rs146092501(T;T)
Reference	Rs146092501(C;C)
Significance	Other
Disease	Ullrich congenital muscular dystrophy 1 not specified not provided Collagen VI-related myopathy
Variation	info
Gene	COL6A3
CLNDBN	Ullrich congenital muscular dystrophy 1 not specified not provided Collagen VI-related myopathy
Reversed	0
HGVS	NC_000002.11:g.238280504C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116798.1, RCV000180594.3, RCV000224823.1, RCV000304466.1,