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rs730880030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880030(G;T)
Make rs730880030(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position23767591
GeneCHCHD10, LOC107985577
is asnp
is mentioned by
dbSNPrs730880030
dbSNP (classic)rs730880030
ClinGenrs730880030
ebirs730880030
HLIrs730880030
Exacrs730880030
Gnomadrs730880030
Varsomers730880030
LitVarrs730880030
Maprs730880030
PheGenIrs730880030
Biobankrs730880030
1000 genomesrs730880030
hgdprs730880030
ensemblrs730880030
geneviewrs730880030
scholarrs730880030
googlers730880030
pharmgkbrs730880030
gwascentralrs730880030
openSNPrs730880030
23andMers730880030
SNPshotrs730880030
SNPdbers730880030
MSV3drs730880030
GWAS Ctlgrs730880030
Max Magnitude0
ClinVar
Risk rs730880030(T;T)
Alt rs730880030(T;T)
Reference Rs730880030(G;G)
Significance Pathogenic
Disease not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Variation info
Gene CHCHD10
CLNDBN not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Reversed 1
HGVS NC_000022.10:g.24109778C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157069.4, RCV000192230.1,