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rs144885874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144885874(C;T)
Make rs144885874(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661845
GeneBCS1L
is asnp
is mentioned by
dbSNPrs144885874
dbSNP (classic)rs144885874
ClinGenrs144885874
ebirs144885874
HLIrs144885874
Exacrs144885874
Gnomadrs144885874
Varsomers144885874
LitVarrs144885874
Maprs144885874
PheGenIrs144885874
Biobankrs144885874
1000 genomesrs144885874
hgdprs144885874
ensemblrs144885874
geneviewrs144885874
scholarrs144885874
googlers144885874
pharmgkbrs144885874
gwascentralrs144885874
openSNPrs144885874
23andMers144885874
SNPshotrs144885874
SNPdbers144885874
MSV3drs144885874
GWAS Ctlgrs144885874
Max Magnitude0
ClinVar
Risk rs144885874(T;T)
Alt rs144885874(T;T)
Reference Rs144885874(C;C)
Significance Other
Disease Mitochondrial complex III deficiency
Variation info
Gene BCS1L
CLNDBN Mitochondrial complex III deficiency
Reversed 0
HGVS NC_000002.11:g.219526568C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006550.4,