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rs118203929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203929(C;C)
Make rs118203929(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position13801652
GeneNDUFAF5
is asnp
is mentioned by
dbSNPrs118203929
ebirs118203929
HLIrs118203929
Exacrs118203929
Varsomers118203929
Maprs118203929
PheGenIrs118203929
hapmaprs118203929
1000 genomesrs118203929
hgdprs118203929
ensemblrs118203929
gopubmedrs118203929
geneviewrs118203929
scholarrs118203929
googlers118203929
pharmgkbrs118203929
gwascentralrs118203929
openSNPrs118203929
23andMers118203929
23andMe allrs118203929
SNP Nexus

SNPshotrs118203929
SNPdbers118203929
MSV3drs118203929
GWAS Ctlgrs118203929
Max Magnitude0
OMIM612360
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203929(C;C)
Alt rs118203929(C;C)
Reference rs118203929(T;T)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFAF5
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000020.10:g.13782298T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000600.2,