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rs199476138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476138(C;C)
Make rs199476138(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position9185
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199476138
ebirs199476138
HLIrs199476138
Exacrs199476138
Varsomers199476138
Maprs199476138
PheGenIrs199476138
hapmaprs199476138
1000 genomesrs199476138
hgdprs199476138
ensemblrs199476138
gopubmedrs199476138
geneviewrs199476138
scholarrs199476138
googlers199476138
pharmgkbrs199476138
gwascentralrs199476138
openSNPrs199476138
23andMers199476138
23andMe allrs199476138
SNP Nexus

SNPshotrs199476138
SNPdbers199476138
MSV3drs199476138
GWAS Ctlgrs199476138
Max Magnitude0
ClinVar
Risk rs199476138(C;C)
Alt rs199476138(C;C)
Reference rs199476138(T;T)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene ATP6
CLNDBN Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.9185T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010282.3,