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rs727502839

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502839(G;T)
Make rs727502839(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237363374
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs727502839
ebirs727502839
HLIrs727502839
Exacrs727502839
Varsomers727502839
Maprs727502839
PheGenIrs727502839
hapmaprs727502839
1000 genomesrs727502839
hgdprs727502839
ensemblrs727502839
gopubmedrs727502839
geneviewrs727502839
scholarrs727502839
googlers727502839
pharmgkbrs727502839
gwascentralrs727502839
openSNPrs727502839
23andMers727502839
23andMe allrs727502839
SNP Nexus

SNPshotrs727502839
SNPdbers727502839
MSV3drs727502839
GWAS Ctlgrs727502839
Max Magnitude0
ClinVar
Risk rs727502839(T;T)
Alt rs727502839(T;T)
Reference rs727502839(G;G)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A3
CLNDBN Congenital muscular dystrophy
Reversed 1
HGVS NC_000002.11:g.238272017C>A
CLNSRC
CLNACC RCV000149962.1,