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rs387906419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906419(A;A)
Make rs387906419(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position7497
GeneACTR6
is asnp
is mentioned by
dbSNPrs387906419
ebirs387906419
HLIrs387906419
Exacrs387906419
Varsomers387906419
Maprs387906419
PheGenIrs387906419
hapmaprs387906419
1000 genomesrs387906419
hgdprs387906419
ensemblrs387906419
gopubmedrs387906419
geneviewrs387906419
scholarrs387906419
googlers387906419
pharmgkbrs387906419
gwascentralrs387906419
openSNPrs387906419
23andMers387906419
23andMe allrs387906419
SNP Nexus

SNPshotrs387906419
SNPdbers387906419
MSV3drs387906419
GWAS Ctlgrs387906419
Max Magnitude0
ClinVar
Risk rs387906419(A;A)
Alt rs387906419(A;A)
Reference rs387906419(G;G)
Significance Pathogenic
Disease Exercise intolerance
Variation info
Gene
CLNDBN Exercise intolerance, muscle pain, and lactic acidemia
Reversed 0
HGVS NC_012920.1:m.7497G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010182.2,