Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060499785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499785(A;A)
Make rs1060499785(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position43979825
GeneLRPPRC
is asnp
is mentioned by
dbSNPrs1060499785
dbSNP (classic)rs1060499785
ClinGenrs1060499785
ebirs1060499785
HLIrs1060499785
Exacrs1060499785
Gnomadrs1060499785
Varsomers1060499785
LitVarrs1060499785
Maprs1060499785
PheGenIrs1060499785
Biobankrs1060499785
1000 genomesrs1060499785
hgdprs1060499785
ensemblrs1060499785
geneviewrs1060499785
scholarrs1060499785
googlers1060499785
pharmgkbrs1060499785
gwascentralrs1060499785
openSNPrs1060499785
23andMers1060499785
23andMe allrs1060499785
SNPshotrs1060499785
SNPdbers1060499785
MSV3drs1060499785
GWAS Ctlgrs1060499785
Max Magnitude0
ClinVar
Risk rs1060499785(A;A)
Alt rs1060499785(A;A)
Reference Rs1060499785(G;G)
Significance Probable-Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 1
HGVS NC_000002.11:g.44206964C>T
CLNSRC
CLNACC RCV000454266.1,