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rs797044605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044605(-;-)
Make rs797044605(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position43905770
GeneLRPPRC
is asnp
is mentioned by
dbSNPrs797044605
dbSNP (classic)rs797044605
ClinGenrs797044605
ebirs797044605
HLIrs797044605
Exacrs797044605
Gnomadrs797044605
Varsomers797044605
LitVarrs797044605
Maprs797044605
PheGenIrs797044605
Biobankrs797044605
1000 genomesrs797044605
hgdprs797044605
ensemblrs797044605
geneviewrs797044605
scholarrs797044605
googlers797044605
pharmgkbrs797044605
gwascentralrs797044605
openSNPrs797044605
23andMers797044605
SNPshotrs797044605
SNPdbers797044605
MSV3drs797044605
GWAS Ctlgrs797044605
Max Magnitude0
ClinVar
Risk rs797044605(-;-)
Alt rs797044605(-;-)
Reference Rs797044605(C;C)
Significance Probable-Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 1
HGVS NC_000002.11:g.44132909delG
CLNSRC
CLNACC RCV000194544.1,