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rs863225443

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225443(C;C)
Make rs863225443(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position43896633
GeneLRPPRC
is asnp
is mentioned by
dbSNPrs863225443
ebirs863225443
HLIrs863225443
Exacrs863225443
Varsomers863225443
Maprs863225443
PheGenIrs863225443
hapmaprs863225443
1000 genomesrs863225443
hgdprs863225443
ensemblrs863225443
gopubmedrs863225443
geneviewrs863225443
scholarrs863225443
googlers863225443
pharmgkbrs863225443
gwascentralrs863225443
openSNPrs863225443
23andMers863225443
23andMe allrs863225443
SNP Nexus

SNPshotrs863225443
SNPdbers863225443
MSV3drs863225443
GWAS Ctlgrs863225443
Max Magnitude0
ClinVar
Risk rs863225443(C;C)
Alt rs863225443(C;C)
Reference rs863225443(G;G)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 1
HGVS NC_000002.11:g.44123772C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000202399.2,