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rs730880032

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880032(A;A)
Make rs730880032(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position23767592
GeneCHCHD10
is asnp
is mentioned by
dbSNPrs730880032
ebirs730880032
HLIrs730880032
Exacrs730880032
Varsomers730880032
Maprs730880032
PheGenIrs730880032
hapmaprs730880032
1000 genomesrs730880032
hgdprs730880032
ensemblrs730880032
gopubmedrs730880032
geneviewrs730880032
scholarrs730880032
googlers730880032
pharmgkbrs730880032
gwascentralrs730880032
openSNPrs730880032
23andMers730880032
23andMe allrs730880032
SNP Nexus

SNPshotrs730880032
SNPdbers730880032
MSV3drs730880032
GWAS Ctlgrs730880032
Max Magnitude0
ClinVar
Risk rs730880032(A,G;A,G)
Alt rs730880032(A,G;A,G)
Reference rs730880032(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene CHCHD10
CLNDBN Myopathy, isolated mitochondrial, autosomal dominant
Reversed 1
HGVS NC_000022.10:g.24109779G>C; NC_000022.10:g.24109779G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000192234.1, RCV000157071.3,