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rs119466000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier for Leigh syndrome, French Canadian type allele
(T;T) 5 Leigh syndrome, French Canadian type
ReferenceGRCh38 38.1/141
Chromosome2
Position43974244
GeneLRPPRC
is asnp
is mentioned by
dbSNPrs119466000
ebirs119466000
HLIrs119466000
Exacrs119466000
Varsomers119466000
Maprs119466000
PheGenIrs119466000
hapmaprs119466000
1000 genomesrs119466000
hgdprs119466000
ensemblrs119466000
gopubmedrs119466000
geneviewrs119466000
scholarrs119466000
googlers119466000
pharmgkbrs119466000
gwascentralrs119466000
openSNPrs119466000
23andMers119466000
23andMe allrs119466000
SNP Nexus

SNPshotrs119466000
SNPdbers119466000
MSV3drs119466000
GWAS Ctlgrs119466000
Max Magnitude5
OMIM607544
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119466000(T;T)
Alt rs119466000(T;T)
Reference rs119466000(C;C)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 1
HGVS NC_000002.11:g.44201383G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003257.4,