rs764556767

Orientation

plus

Stabilized

plus

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

Make rs764556767(C;C)

Make rs764556767(C;G)

Reference

GRCh38.p7 38.3/149

Chromosome

21

Position

45998425

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs764556767
dbSNP (classic)	rs764556767
ClinGen	rs764556767
ebi	rs764556767
HLI	rs764556767
Exac	rs764556767
Gnomad	rs764556767
Varsome	rs764556767
LitVar	rs764556767
Map	rs764556767
PheGenI	rs764556767
Biobank	rs764556767
1000 genomes	rs764556767
hgdp	rs764556767
ensembl	rs764556767
geneview	rs764556767
scholar	rs764556767
google	rs764556767
pharmgkb	rs764556767
gwascentral	rs764556767
openSNP	rs764556767
23andMe	rs764556767
SNPshot	rs764556767
SNPdbe	rs764556767
MSV3d	rs764556767
GWAS Ctlg	rs764556767

Max Magnitude

0

ClinVar
Risk	rs764556767(A;A) rs764556767(C;C)
Alt	rs764556767(A;A) rs764556767(C;C)
Reference	Rs764556767(G;G)
Significance	Probable-Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A1
CLNDBN	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47418339G>A
CLNSRC
CLNACC	RCV000293620.1, RCV000402786.1,