Have questions? Visit https://www.reddit.com/r/SNPedia

rs554219567

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs554219567(A;A)
Make rs554219567(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237364398
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs554219567
ebirs554219567
HLIrs554219567
Exacrs554219567
Varsomers554219567
Maprs554219567
PheGenIrs554219567
hapmaprs554219567
1000 genomesrs554219567
hgdprs554219567
ensemblrs554219567
gopubmedrs554219567
geneviewrs554219567
scholarrs554219567
googlers554219567
pharmgkbrs554219567
gwascentralrs554219567
openSNPrs554219567
23andMers554219567
23andMe allrs554219567
SNP Nexus

SNPshotrs554219567
SNPdbers554219567
MSV3drs554219567
GWAS Ctlgrs554219567
Max Magnitude0
ClinVar
Risk rs554219567(A,T;A,T)
Alt rs554219567(A,T;A,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,