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rs104894705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894705(A;A)
Make rs104894705(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position1391006
GeneNDUFS7
is asnp
is mentioned by
dbSNPrs104894705
ebirs104894705
HLIrs104894705
Exacrs104894705
Varsomers104894705
Maprs104894705
PheGenIrs104894705
hapmaprs104894705
1000 genomesrs104894705
hgdprs104894705
ensemblrs104894705
gopubmedrs104894705
geneviewrs104894705
scholarrs104894705
googlers104894705
pharmgkbrs104894705
gwascentralrs104894705
openSNPrs104894705
23andMers104894705
23andMe allrs104894705
SNP Nexus

SNPshotrs104894705
SNPdbers104894705
MSV3drs104894705
GWAS Ctlgrs104894705
Max Magnitude0
OMIM601825
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894705(A;A)
Alt rs104894705(A;A)
Reference rs104894705(G;G)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency not provided
Variation info
Gene NDUFS7
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency not provided
Reversed 0
HGVS NC_000019.9:g.1391005G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008120.2, RCV000197296.1,