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rs879253874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253874(G;T)
Make rs879253874(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position32731492
GeneDNM1L, YARS2
is asnp
is mentioned by
dbSNPrs879253874
dbSNP (classic)rs879253874
ClinGenrs879253874
ebirs879253874
HLIrs879253874
Exacrs879253874
Gnomadrs879253874
Varsomers879253874
LitVarrs879253874
Maprs879253874
PheGenIrs879253874
Biobankrs879253874
1000 genomesrs879253874
hgdprs879253874
ensemblrs879253874
geneviewrs879253874
scholarrs879253874
googlers879253874
pharmgkbrs879253874
gwascentralrs879253874
openSNPrs879253874
23andMers879253874
SNPshotrs879253874
SNPdbers879253874
MSV3drs879253874
GWAS Ctlgrs879253874
Max Magnitude0
ClinVar
Risk rs879253874(T;T)
Alt rs879253874(T;T)
Reference Rs879253874(G;G)
Significance Probable-Pathogenic
Disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Variation info
Gene YARS2 DNM1L
CLNDBN Encephalopathy due to defective mitochondrial and peroxisomal fission 1
Reversed 0
HGVS NC_000012.11:g.32884426G>T
CLNSRC
CLNACC RCV000237095.1,