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

rs797044988

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044988(A;C)
Make rs797044988(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position237359390
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs797044988
ebirs797044988
HLIrs797044988
Exacrs797044988
Varsomers797044988
Maprs797044988
PheGenIrs797044988
hapmaprs797044988
1000 genomesrs797044988
hgdprs797044988
ensemblrs797044988
gopubmedrs797044988
geneviewrs797044988
scholarrs797044988
googlers797044988
pharmgkbrs797044988
gwascentralrs797044988
openSNPrs797044988
23andMers797044988
23andMe allrs797044988
SNP Nexus

SNPshotrs797044988
SNPdbers797044988
MSV3drs797044988
GWAS Ctlgrs797044988
Max Magnitude0
ClinVar
Risk rs797044988(C;C)
Alt rs797044988(C;C)
Reference rs797044988(A;A)
Significance Probable-Pathogenic
Disease Bethlem myopathy Ullrich congenital muscular dystrophy
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy Ullrich congenital muscular dystrophy
Reversed 1
HGVS NC_000002.11:g.238268033T>G
CLNSRC
CLNACC RCV000190463.1,