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rs387906422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906422(C;C)
Make rs387906422(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position8528
GeneC14orf182
is asnp
is mentioned by
dbSNPrs387906422
ebirs387906422
HLIrs387906422
Exacrs387906422
Varsomers387906422
Maprs387906422
PheGenIrs387906422
hapmaprs387906422
1000 genomesrs387906422
hgdprs387906422
ensemblrs387906422
gopubmedrs387906422
geneviewrs387906422
scholarrs387906422
googlers387906422
pharmgkbrs387906422
gwascentralrs387906422
openSNPrs387906422
23andMers387906422
23andMe allrs387906422
SNP Nexus

SNPshotrs387906422
SNPdbers387906422
MSV3drs387906422
GWAS Ctlgrs387906422
Max Magnitude0
ClinVar
Risk rs387906422(C;C)
Alt rs387906422(C;C)
Reference rs387906422(T;T)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene ATP6
CLNDBN Cardiomyopathy, infantile hypertrophic
Reversed 0
HGVS NC_012920.1:m.8528T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010272.4,