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rs142709940

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142709940(C;T)
Make rs142709940(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46124919
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs142709940
ebirs142709940
HLIrs142709940
Exacrs142709940
Varsomers142709940
Maprs142709940
PheGenIrs142709940
hapmaprs142709940
1000 genomesrs142709940
hgdprs142709940
ensemblrs142709940
gopubmedrs142709940
geneviewrs142709940
scholarrs142709940
googlers142709940
pharmgkbrs142709940
gwascentralrs142709940
openSNPrs142709940
23andMers142709940
23andMe allrs142709940
SNP Nexus

SNPshotrs142709940
SNPdbers142709940
MSV3drs142709940
GWAS Ctlgrs142709940
Max Magnitude0
ClinVar
Risk rs142709940(A,T;A,T)
Alt rs142709940(A,T;A,T)
Reference rs142709940(C;C)
Significance Probable-Pathogenic
Disease not specified Congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN not specified Congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47544833C>T
CLNSRC
CLNACC RCV000079859.4, RCV000149929.1,