rs554219567

Orientation

plus

Stabilized

plus

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

Make rs554219567(A;A)

Make rs554219567(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

237364398

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs554219567
dbSNP (classic)	rs554219567
ClinGen	rs554219567
ebi	rs554219567
HLI	rs554219567
Exac	rs554219567
Gnomad	rs554219567
Varsome	rs554219567
LitVar	rs554219567
Map	rs554219567
PheGenI	rs554219567
Biobank	rs554219567
1000 genomes	rs554219567
hgdp	rs554219567
ensembl	rs554219567
geneview	rs554219567
scholar	rs554219567
google	rs554219567
pharmgkb	rs554219567
gwascentral	rs554219567
openSNP	rs554219567
23andMe	rs554219567
SNPshot	rs554219567
SNPdbe	rs554219567
MSV3d	rs554219567
GWAS Ctlg	rs554219567

Max Magnitude

0

ClinVar
Risk	rs554219567(A;A) rs554219567(T;T)
Alt	rs554219567(A;A) rs554219567(T;T)
Reference	Rs554219567(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy
Variation	info
Gene	COL6A3
CLNDBN	Congenital muscular dystrophy
Reversed	0
HGVS	NC_000002.11:g.238273041C>A
CLNSRC
CLNACC	RCV000149953.1,