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rs199476136

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476136(C;C)
Make rs199476136(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position8851
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199476136
ebirs199476136
HLIrs199476136
Exacrs199476136
Varsomers199476136
Maprs199476136
PheGenIrs199476136
hapmaprs199476136
1000 genomesrs199476136
hgdprs199476136
ensemblrs199476136
gopubmedrs199476136
geneviewrs199476136
scholarrs199476136
googlers199476136
pharmgkbrs199476136
gwascentralrs199476136
openSNPrs199476136
23andMers199476136
23andMe allrs199476136
SNP Nexus

SNPshotrs199476136
SNPdbers199476136
MSV3drs199476136
GWAS Ctlgrs199476136
Max Magnitude0
ClinVar
Risk rs199476136(C;C)
Alt rs199476136(C;C)
Reference rs199476136(T;T)
Significance Pathogenic
Disease Striatonigral degeneration Leigh syndrome
Variation info
Gene ATP6
CLNDBN Striatonigral degeneration, infantile, mitochondrial Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.8851T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010280.4, RCV000144005.2,