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rs199474663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199474663(A;G)
Make rs199474663(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position3260
is asnp
is mentioned by
dbSNPrs199474663
dbSNP (classic)rs199474663
ClinGenrs199474663
ebirs199474663
HLIrs199474663
Exacrs199474663
Gnomadrs199474663
Varsomers199474663
LitVarrs199474663
Maprs199474663
PheGenIrs199474663
Biobankrs199474663
1000 genomesrs199474663
hgdprs199474663
ensemblrs199474663
geneviewrs199474663
scholarrs199474663
googlers199474663
pharmgkbrs199474663
gwascentralrs199474663
openSNPrs199474663
23andMers199474663
SNPshotrs199474663
SNPdbers199474663
MSV3drs199474663
GWAS Ctlgrs199474663
Max Magnitude0
ClinVar
Risk rs199474663(G;G)
Alt rs199474663(G;G)
Reference Rs199474663(A;A)
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.3260A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010219.2,