rs201093313

Orientation

plus

Stabilized

plus

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

Make rs201093313(C;T)

Make rs201093313(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

45989100

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs201093313
dbSNP (classic)	rs201093313
ClinGen	rs201093313
ebi	rs201093313
HLI	rs201093313
Exac	rs201093313
Gnomad	rs201093313
Varsome	rs201093313
LitVar	rs201093313
Map	rs201093313
PheGenI	rs201093313
Biobank	rs201093313
1000 genomes	rs201093313
hgdp	rs201093313
ensembl	rs201093313
geneview	rs201093313
scholar	rs201093313
google	rs201093313
pharmgkb	rs201093313
gwascentral	rs201093313
openSNP	rs201093313
23andMe	rs201093313
SNPshot	rs201093313
SNPdbe	rs201093313
MSV3d	rs201093313
GWAS Ctlg	rs201093313

Max Magnitude

0

ClinVar
Risk	rs201093313(T;T)
Alt	rs201093313(T;T)
Reference	Rs201093313(C;C)
Significance	Pathogenic
Disease	Bethlem myopathy 1
Variation	info
Gene	COL6A1
CLNDBN	Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47409014C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000184024.2,