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rs587776441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(T;T) 6 Leigh's disease
Make rs587776441(G;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position1644
is asnp
is mentioned by
dbSNPrs587776441
dbSNP (classic)rs587776441
ClinGenrs587776441
ebirs587776441
HLIrs587776441
Exacrs587776441
Gnomadrs587776441
Varsomers587776441
LitVarrs587776441
Maprs587776441
PheGenIrs587776441
Biobankrs587776441
1000 genomesrs587776441
hgdprs587776441
ensemblrs587776441
geneviewrs587776441
scholarrs587776441
googlers587776441
pharmgkbrs587776441
gwascentralrs587776441
openSNPrs587776441
23andMers587776441
SNPshotrs587776441
SNPdbers587776441
MSV3drs587776441
GWAS Ctlgrs587776441
Max Magnitude6

m.1644G>T

Leigh's disease

[PMID 9270602]


ClinVar
Risk Rs587776441(T;T)
Alt Rs587776441(T;T)
Reference Rs587776441(G;G)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene
CLNDBN Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.1644G>T
CLNSRC
CLNACC RCV000144021.2,