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rs863225445

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs863225445(-;-)
Make rs863225445(-;AGA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position43934198
GeneLRPPRC
is asnp
is mentioned by
dbSNPrs863225445
dbSNP (old)rs863225445
ClinGenrs863225445
ebirs863225445
HLIrs863225445
Exacrs863225445
Gnomadrs863225445
Varsomers863225445
Maprs863225445
PheGenIrs863225445
Biobankrs863225445
1000 genomesrs863225445
hgdprs863225445
ensemblrs863225445
gopubmedrs863225445
geneviewrs863225445
scholarrs863225445
googlers863225445
pharmgkbrs863225445
gwascentralrs863225445
openSNPrs863225445
23andMers863225445
23andMe allrs863225445
SNP Nexus

SNPshotrs863225445
SNPdbers863225445
MSV3drs863225445
GWAS Ctlgrs863225445
Max Magnitude0
ClinVar
Risk rs863225445(-;-)
Alt rs863225445(-;-)
Reference Rs863225445(AGA;AGA)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 1
HGVS NC_000002.11:g.44161337_44161339delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000202395.2,