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rs863223953

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863223953(C;T)
Make rs863223953(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position32731362
GeneDNM1L, YARS2
is asnp
is mentioned by
dbSNPrs863223953
ebirs863223953
HLIrs863223953
Exacrs863223953
Varsomers863223953
Maprs863223953
PheGenIrs863223953
hapmaprs863223953
1000 genomesrs863223953
hgdprs863223953
ensemblrs863223953
gopubmedrs863223953
geneviewrs863223953
scholarrs863223953
googlers863223953
pharmgkbrs863223953
gwascentralrs863223953
openSNPrs863223953
23andMers863223953
23andMe allrs863223953
SNP Nexus

SNPshotrs863223953
SNPdbers863223953
MSV3drs863223953
GWAS Ctlgrs863223953
Max Magnitude0
ClinVar
Risk rs863223953(T;T)
Alt rs863223953(T;T)
Reference rs863223953(C;C)
Significance Pathogenic
Disease not specified Encephalopathy
Variation info
Gene YARS2 DNM1L
CLNDBN not specified Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
Reversed 0
HGVS NC_000012.11:g.32884296C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000200196.1, RCV000239677.1,