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rs769022521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs769022521(-;T)
Make rs769022521(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position43918025
GeneLRPPRC
is asnp
is mentioned by
dbSNPrs769022521
ClinGenrs769022521
ebirs769022521
HLIrs769022521
Exacrs769022521
Varsomers769022521
Maprs769022521
PheGenIrs769022521
hapmaprs769022521
1000 genomesrs769022521
hgdprs769022521
ensemblrs769022521
gopubmedrs769022521
geneviewrs769022521
scholarrs769022521
googlers769022521
pharmgkbrs769022521
gwascentralrs769022521
openSNPrs769022521
23andMers769022521
23andMe allrs769022521
SNP Nexus

SNPshotrs769022521
SNPdbers769022521
MSV3drs769022521
GWAS Ctlgrs769022521
Max Magnitude0
ClinVar
Risk rs769022521(T;T)
Alt rs769022521(T;T)
Reference Rs769022521(-;-)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 0
HGVS NC_000002.11:g.44145165dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000202391.2,