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rs587776440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776440(A;G)
Make rs587776440(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position13514
GeneND5
is asnp
is mentioned by
dbSNPrs587776440
dbSNP (classic)rs587776440
ClinGenrs587776440
ebirs587776440
HLIrs587776440
Exacrs587776440
Gnomadrs587776440
Varsomers587776440
LitVarrs587776440
Maprs587776440
PheGenIrs587776440
Biobankrs587776440
1000 genomesrs587776440
hgdprs587776440
ensemblrs587776440
geneviewrs587776440
scholarrs587776440
googlers587776440
pharmgkbrs587776440
gwascentralrs587776440
openSNPrs587776440
23andMers587776440
SNPshotrs587776440
SNPdbers587776440
MSV3drs587776440
GWAS Ctlgrs587776440
Max Magnitude0
ClinVar
Risk rs587776440(G;G)
Alt rs587776440(G;G)
Reference Rs587776440(A;A)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene ND5
CLNDBN Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.13514A>G
CLNSRC
CLNACC RCV000144017.2,