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rs727502840

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502840(A;A)
Make rs727502840(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237361137
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs727502840
ebirs727502840
HLIrs727502840
Exacrs727502840
Varsomers727502840
Maprs727502840
PheGenIrs727502840
hapmaprs727502840
1000 genomesrs727502840
hgdprs727502840
ensemblrs727502840
gopubmedrs727502840
geneviewrs727502840
scholarrs727502840
googlers727502840
pharmgkbrs727502840
gwascentralrs727502840
openSNPrs727502840
23andMers727502840
23andMe allrs727502840
SNP Nexus

SNPshotrs727502840
SNPdbers727502840
MSV3drs727502840
GWAS Ctlgrs727502840
Max Magnitude0
ClinVar
Risk rs727502840(A;A)
Alt rs727502840(A;A)
Reference rs727502840(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A3
CLNDBN Congenital muscular dystrophy
Reversed 1
HGVS NC_000002.11:g.238269780C>T
CLNSRC
CLNACC RCV000149963.1,