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rs199474660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474660(C;T)
Make rs199474660(T;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position3303
GeneDDX27
is asnp
is mentioned by
dbSNPrs199474660
ebirs199474660
HLIrs199474660
Exacrs199474660
Varsomers199474660
Maprs199474660
PheGenIrs199474660
hapmaprs199474660
1000 genomesrs199474660
hgdprs199474660
ensemblrs199474660
gopubmedrs199474660
geneviewrs199474660
scholarrs199474660
googlers199474660
pharmgkbrs199474660
gwascentralrs199474660
openSNPrs199474660
23andMers199474660
23andMe allrs199474660
SNP Nexus

SNPshotrs199474660
SNPdbers199474660
MSV3drs199474660
GWAS Ctlgrs199474660
Max Magnitude0
ClinVar
Risk rs199474660(T;T)
Alt rs199474660(T;T)
Reference rs199474660(C;C)
Significance Pathogenic
Disease Cardiomyopathy with or without skeletal myopathy
Variation info
Gene
CLNDBN Cardiomyopathy with or without skeletal myopathy
Reversed 0
HGVS NC_012920.1:m.3303C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010215.2,