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rs104893898

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893898(C;T)
Make rs104893898(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position53646371
GeneNDUFS4
is asnp
is mentioned by
dbSNPrs104893898
dbSNP (classic)rs104893898
ClinGenrs104893898
ebirs104893898
HLIrs104893898
Exacrs104893898
Gnomadrs104893898
Varsomers104893898
LitVarrs104893898
Maprs104893898
PheGenIrs104893898
Biobankrs104893898
1000 genomesrs104893898
hgdprs104893898
ensemblrs104893898
geneviewrs104893898
scholarrs104893898
googlers104893898
pharmgkbrs104893898
gwascentralrs104893898
openSNPrs104893898
23andMers104893898
SNPshotrs104893898
SNPdbers104893898
MSV3drs104893898
GWAS Ctlgrs104893898
Max Magnitude0
OMIM602694
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893898(T;T)
Alt rs104893898(T;T)
Reference Rs104893898(C;C)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene NDUFS4
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency
Reversed 0
HGVS NC_000005.9:g.52942201C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007292.2,