rs797044456

Orientation

plus

Stabilized

plus

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

Make rs797044456(C;C)

Make rs797044456(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

45990828

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs797044456
dbSNP (classic)	rs797044456
ClinGen	rs797044456
ebi	rs797044456
HLI	rs797044456
Exac	rs797044456
Gnomad	rs797044456
Varsome	rs797044456
LitVar	rs797044456
Map	rs797044456
PheGenI	rs797044456
Biobank	rs797044456
1000 genomes	rs797044456
hgdp	rs797044456
ensembl	rs797044456
geneview	rs797044456
scholar	rs797044456
google	rs797044456
pharmgkb	rs797044456
gwascentral	rs797044456
openSNP	rs797044456
23andMe	rs797044456
SNPshot	rs797044456
SNPdbe	rs797044456
MSV3d	rs797044456
GWAS Ctlg	rs797044456

Max Magnitude

0

ClinVar
Risk	rs797044456(C;C)
Alt	rs797044456(C;C)
Reference	Rs797044456(T;T)
Significance	Pathogenic
Disease	Bethlem myopathy 1
Variation	info
Gene	COL6A1
CLNDBN	Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47410742T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018711.25,