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rs727502836

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502836(G;T)
Make rs727502836(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237350155
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs727502836
ebirs727502836
HLIrs727502836
Exacrs727502836
Varsomers727502836
Maprs727502836
PheGenIrs727502836
hapmaprs727502836
1000 genomesrs727502836
hgdprs727502836
ensemblrs727502836
gopubmedrs727502836
geneviewrs727502836
scholarrs727502836
googlers727502836
pharmgkbrs727502836
gwascentralrs727502836
openSNPrs727502836
23andMers727502836
23andMe allrs727502836
SNP Nexus

SNPshotrs727502836
SNPdbers727502836
MSV3drs727502836
GWAS Ctlgrs727502836
Max Magnitude0
ClinVar
Risk rs727502836(T;T)
Alt rs727502836(T;T)
Reference rs727502836(G;G)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A3
CLNDBN Congenital muscular dystrophy
Reversed 1
HGVS NC_000002.11:g.238258798C>A
CLNSRC
CLNACC RCV000149955.1,