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rs137852863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852863(C;T)
Make rs137852863(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position61073136
GeneNDUFAF2
is asnp
is mentioned by
dbSNPrs137852863
ebirs137852863
HLIrs137852863
Exacrs137852863
Varsomers137852863
Maprs137852863
PheGenIrs137852863
hapmaprs137852863
1000 genomesrs137852863
hgdprs137852863
ensemblrs137852863
gopubmedrs137852863
geneviewrs137852863
scholarrs137852863
googlers137852863
pharmgkbrs137852863
gwascentralrs137852863
openSNPrs137852863
23andMers137852863
23andMe allrs137852863
SNP Nexus

SNPshotrs137852863
SNPdbers137852863
MSV3drs137852863
GWAS Ctlgrs137852863
Max Magnitude0
OMIM609653
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852863(T;T)
Alt rs137852863(T;T)
Reference rs137852863(C;C)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFAF2
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000005.9:g.60368963C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001661.2,