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rs863225446

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225446(A;G)
Make rs863225446(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position43960534
GeneLRPPRC
is asnp
is mentioned by
dbSNPrs863225446
ebirs863225446
HLIrs863225446
Exacrs863225446
Varsomers863225446
Maprs863225446
PheGenIrs863225446
hapmaprs863225446
1000 genomesrs863225446
hgdprs863225446
ensemblrs863225446
gopubmedrs863225446
geneviewrs863225446
scholarrs863225446
googlers863225446
pharmgkbrs863225446
gwascentralrs863225446
openSNPrs863225446
23andMers863225446
23andMe allrs863225446
SNP Nexus

SNPshotrs863225446
SNPdbers863225446
MSV3drs863225446
GWAS Ctlgrs863225446
Max Magnitude0
ClinVar
Risk rs863225446(G;G)
Alt rs863225446(G;G)
Reference rs863225446(A;A)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 1
HGVS NC_000002.11:g.44187673T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000202398.2,