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rs121908531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908531(A;A)
Make rs121908531(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position32731118
GeneDNM1L, YARS2
is asnp
is mentioned by
dbSNPrs121908531
ebirs121908531
HLIrs121908531
Exacrs121908531
Varsomers121908531
Maprs121908531
PheGenIrs121908531
hapmaprs121908531
1000 genomesrs121908531
hgdprs121908531
ensemblrs121908531
gopubmedrs121908531
geneviewrs121908531
scholarrs121908531
googlers121908531
pharmgkbrs121908531
gwascentralrs121908531
openSNPrs121908531
23andMers121908531
23andMe allrs121908531
SNP Nexus

SNPshotrs121908531
SNPdbers121908531
MSV3drs121908531
GWAS Ctlgrs121908531
Max Magnitude0
OMIM603850
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908531(A;A)
Alt rs121908531(A;A)
Reference rs121908531(C;C)
Significance Pathogenic
Disease Encephalopathy not provided
Variation info
Gene YARS2 DNM1L
CLNDBN Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission not provided
Reversed 0
HGVS NC_000012.11:g.32884052C>A; NC_000012.11:g.32884052C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006386.4, RCV000200151.1,