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rs587777574

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777574(A;A)
Make rs587777574(A;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position23767459
GeneCHCHD10, LOC107985577
is asnp
is mentioned by
dbSNPrs587777574
dbSNP (classic)rs587777574
ClinGenrs587777574
ebirs587777574
HLIrs587777574
Exacrs587777574
Gnomadrs587777574
Varsomers587777574
LitVarrs587777574
Maprs587777574
PheGenIrs587777574
Biobankrs587777574
1000 genomesrs587777574
hgdprs587777574
ensemblrs587777574
geneviewrs587777574
scholarrs587777574
googlers587777574
pharmgkbrs587777574
gwascentralrs587777574
openSNPrs587777574
23andMers587777574
SNPshotrs587777574
SNPdbers587777574
MSV3drs587777574
GWAS Ctlgrs587777574
Max Magnitude0
ClinVar
Risk rs587777574(A;A) Rs587777574(G;G)
Alt rs587777574(A;A) Rs587777574(G;G)
Reference Rs587777574(C;C)
Significance Pathogenic
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Myopathy
Variation info
Gene CHCHD10
CLNDBN Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Myopathy, isolated mitochondrial, autosomal dominant
Reversed 1
HGVS NC_000022.10:g.24109646G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000128857.5, RCV000192232.1,