rs139260335

Orientation

plus

Stabilized

plus

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

Make rs139260335(C;C)

Make rs139260335(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

237344571

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs139260335
dbSNP (classic)	rs139260335
ClinGen	rs139260335
ebi	rs139260335
HLI	rs139260335
Exac	rs139260335
Gnomad	rs139260335
Varsome	rs139260335
LitVar	rs139260335
Map	rs139260335
PheGenI	rs139260335
Biobank	rs139260335
1000 genomes	rs139260335
hgdp	rs139260335
ensembl	rs139260335
geneview	rs139260335
scholar	rs139260335
google	rs139260335
pharmgkb	rs139260335
gwascentral	rs139260335
openSNP	rs139260335
23andMe	rs139260335
SNPshot	rs139260335
SNPdbe	rs139260335
MSV3d	rs139260335
GWAS Ctlg	rs139260335

Max Magnitude

0

ClinVar
Risk	rs139260335(C;C)
Alt	rs139260335(C;C)
Reference	Rs139260335(T;T)
Significance	Other
Disease	not provided Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	not provided Bethlem myopathy 1
Reversed	0
HGVS	NC_000002.11:g.238253214T>C
CLNSRC
CLNACC	RCV000177877.1, RCV000352490.1,