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rs1057518694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518694(A;A)
Make rs1057518694(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position32731069
GeneDNM1L, YARS2
is asnp
is mentioned by
dbSNPrs1057518694
dbSNP (old)rs1057518694
ClinGenrs1057518694
ebirs1057518694
HLIrs1057518694
Exacrs1057518694
Gnomadrs1057518694
Varsomers1057518694
Maprs1057518694
PheGenIrs1057518694
Biobankrs1057518694
1000 genomesrs1057518694
hgdprs1057518694
ensemblrs1057518694
gopubmedrs1057518694
geneviewrs1057518694
scholarrs1057518694
googlers1057518694
pharmgkbrs1057518694
gwascentralrs1057518694
openSNPrs1057518694
23andMers1057518694
23andMe allrs1057518694
SNPshotrs1057518694
SNPdbers1057518694
MSV3drs1057518694
GWAS Ctlgrs1057518694
Max Magnitude0
ClinVar
Risk rs1057518694(A;A)
Alt rs1057518694(A;A)
Reference Rs1057518694(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.32884003G>A
CLNSRC
CLNACC RCV000414839.1,