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rs886037861

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886037861(A;A)
Make rs886037861(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position32731018
GeneDNM1L, YARS2
is asnp
is mentioned by
dbSNPrs886037861
dbSNP (classic)rs886037861
ClinGenrs886037861
ebirs886037861
HLIrs886037861
Exacrs886037861
Gnomadrs886037861
Varsomers886037861
LitVarrs886037861
Maprs886037861
PheGenIrs886037861
Biobankrs886037861
1000 genomesrs886037861
hgdprs886037861
ensemblrs886037861
geneviewrs886037861
scholarrs886037861
googlers886037861
pharmgkbrs886037861
gwascentralrs886037861
openSNPrs886037861
23andMers886037861
SNPshotrs886037861
SNPdbers886037861
MSV3drs886037861
GWAS Ctlgrs886037861
Max Magnitude0
ClinVar
Risk rs886037861(A;A)
Alt rs886037861(A;A)
Reference Rs886037861(G;G)
Significance 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.32883952G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239681.1,