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rs397514615

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514615(C;T)
Make rs397514615(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position227330777
GeneMFF
is asnp
is mentioned by
dbSNPrs397514615
ebirs397514615
HLIrs397514615
Exacrs397514615
Varsomers397514615
Maprs397514615
PheGenIrs397514615
hapmaprs397514615
1000 genomesrs397514615
hgdprs397514615
ensemblrs397514615
gopubmedrs397514615
geneviewrs397514615
scholarrs397514615
googlers397514615
pharmgkbrs397514615
gwascentralrs397514615
openSNPrs397514615
23andMers397514615
23andMe allrs397514615
SNP Nexus

SNPshotrs397514615
SNPdbers397514615
MSV3drs397514615
GWAS Ctlgrs397514615
Max Magnitude0
ClinVar
Risk rs397514615(T;T)
Alt rs397514615(T;T)
Reference rs397514615(C;C)
Significance Pathogenic
Disease ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 Global developmental delay Mitochondrial encephalomyopathy
Variation info
Gene MFF
CLNDBN ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 Global developmental delay Mitochondrial encephalomyopathy
Reversed 0
HGVS NC_000002.11:g.228195493C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033052.3, RCV000162157.1,