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rs199476135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476135(C;C)
Make rs199476135(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position9176
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199476135
ebirs199476135
HLIrs199476135
Exacrs199476135
Varsomers199476135
Maprs199476135
PheGenIrs199476135
hapmaprs199476135
1000 genomesrs199476135
hgdprs199476135
ensemblrs199476135
gopubmedrs199476135
geneviewrs199476135
scholarrs199476135
googlers199476135
pharmgkbrs199476135
gwascentralrs199476135
openSNPrs199476135
23andMers199476135
23andMe allrs199476135
SNP Nexus

SNPshotrs199476135
SNPdbers199476135
MSV3drs199476135
GWAS Ctlgrs199476135
Max Magnitude0
ClinVar
Risk rs199476135(C,G;C,G)
Alt rs199476135(C,G;C,G)
Reference rs199476135(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.9176T>C; NC_012920.1:m.9176T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010278.2, RCV000010279.3, RCV000010285.3,