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rs863225444

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGT;GGT) 0 common in clinvar
Make rs863225444(-;-)
Make rs863225444(-;GGT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position43934786
GeneLRPPRC
is asnp
is mentioned by
dbSNPrs863225444
dbSNP (old)rs863225444
ClinGenrs863225444
ebirs863225444
HLIrs863225444
Exacrs863225444
Gnomadrs863225444
Varsomers863225444
Maprs863225444
PheGenIrs863225444
Biobankrs863225444
1000 genomesrs863225444
hgdprs863225444
ensemblrs863225444
gopubmedrs863225444
geneviewrs863225444
scholarrs863225444
googlers863225444
pharmgkbrs863225444
gwascentralrs863225444
openSNPrs863225444
23andMers863225444
23andMe allrs863225444
SNP Nexus

SNPshotrs863225444
SNPdbers863225444
MSV3drs863225444
GWAS Ctlgrs863225444
Max Magnitude0
ClinVar
Risk rs863225444(-;-)
Alt rs863225444(-;-)
Reference Rs863225444(GGT;GGT)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 1
HGVS NC_000002.11:g.44161925_44161927delACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000202390.2,