Have questions? Visit https://www.reddit.com/r/SNPedia

rs757043077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs757043077(G;T)
Make rs757043077(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position13808873
GeneNDUFAF5
is asnp
is mentioned by
dbSNPrs757043077
dbSNP (classic)rs757043077
ClinGenrs757043077
ebirs757043077
HLIrs757043077
Exacrs757043077
Gnomadrs757043077
Varsomers757043077
LitVarrs757043077
Maprs757043077
PheGenIrs757043077
Biobankrs757043077
1000 genomesrs757043077
hgdprs757043077
ensemblrs757043077
geneviewrs757043077
scholarrs757043077
googlers757043077
pharmgkbrs757043077
gwascentralrs757043077
openSNPrs757043077
23andMers757043077
23andMe allrs757043077
SNPshotrs757043077
SNPdbers757043077
MSV3drs757043077
GWAS Ctlgrs757043077
Max Magnitude0

aka c.749G>T (p.Gly250Val)

ClinVar
Risk rs757043077(T;T)
Alt rs757043077(T;T)
Reference Rs757043077(G;G)
Significance Pathogenic
Disease Leigh syndrome not provided Mitochondrial complex I deficiency
Variation info
Gene NDUFAF5
CLNDBN Leigh syndrome not provided Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000020.10:g.13789519G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412492.1, RCV000431261.1, RCV000477759.1,