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rs587776444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776444(C;C)
Make rs587776444(C;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position8989
GeneATP6
is asnp
is mentioned by
dbSNPrs587776444
dbSNP (classic)rs587776444
ClinGenrs587776444
ebirs587776444
HLIrs587776444
Exacrs587776444
Gnomadrs587776444
Varsomers587776444
LitVarrs587776444
Maprs587776444
PheGenIrs587776444
Biobankrs587776444
1000 genomesrs587776444
hgdprs587776444
ensemblrs587776444
geneviewrs587776444
scholarrs587776444
googlers587776444
pharmgkbrs587776444
gwascentralrs587776444
openSNPrs587776444
23andMers587776444
SNPshotrs587776444
SNPdbers587776444
MSV3drs587776444
GWAS Ctlgrs587776444
Max Magnitude0
ClinVar
Risk rs587776444(C;C)
Alt rs587776444(C;C)
Reference Rs587776444(G;G)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene ATP6
CLNDBN Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.8989G>C
CLNSRC
CLNACC RCV000144025.2,