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rs104893899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893899(A;A)
Make rs104893899(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position53560706
GeneNDUFS4
is asnp
is mentioned by
dbSNPrs104893899
dbSNP (classic)rs104893899
ClinGenrs104893899
ebirs104893899
HLIrs104893899
Exacrs104893899
Gnomadrs104893899
Varsomers104893899
LitVarrs104893899
Maprs104893899
PheGenIrs104893899
Biobankrs104893899
1000 genomesrs104893899
hgdprs104893899
ensemblrs104893899
geneviewrs104893899
scholarrs104893899
googlers104893899
pharmgkbrs104893899
gwascentralrs104893899
openSNPrs104893899
23andMers104893899
SNPshotrs104893899
SNPdbers104893899
MSV3drs104893899
GWAS Ctlgrs104893899
Max Magnitude0
OMIM602694
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893899(A;A)
Alt rs104893899(A;A)
Reference Rs104893899(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS4
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000005.9:g.52856536G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007293.2,