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rs730880033

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880033(C;C)
Make rs730880033(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position23767463
GeneCHCHD10
is asnp
is mentioned by
dbSNPrs730880033
ebirs730880033
HLIrs730880033
Exacrs730880033
Varsomers730880033
Maprs730880033
PheGenIrs730880033
hapmaprs730880033
1000 genomesrs730880033
hgdprs730880033
ensemblrs730880033
gopubmedrs730880033
geneviewrs730880033
scholarrs730880033
googlers730880033
pharmgkbrs730880033
gwascentralrs730880033
openSNPrs730880033
23andMers730880033
23andMe allrs730880033
SNP Nexus

SNPshotrs730880033
SNPdbers730880033
MSV3drs730880033
GWAS Ctlgrs730880033
Max Magnitude0
ClinVar
Risk rs730880033(C;C)
Alt rs730880033(C;C)
Reference rs730880033(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene CHCHD10
CLNDBN Myopathy, isolated mitochondrial, autosomal dominant
Reversed 1
HGVS NC_000022.10:g.24109650C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000157071.3, RCV000192234.1,