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rs121908578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908578(C;T)
Make rs121908578(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661848
GeneBCS1L
is asnp
is mentioned by
dbSNPrs121908578
dbSNP (old)rs121908578
ClinGenrs121908578
ebirs121908578
HLIrs121908578
Exacrs121908578
Varsomers121908578
Maprs121908578
PheGenIrs121908578
Biobankrs121908578
1000 genomesrs121908578
hgdprs121908578
ensemblrs121908578
gopubmedrs121908578
geneviewrs121908578
scholarrs121908578
googlers121908578
pharmgkbrs121908578
gwascentralrs121908578
openSNPrs121908578
23andMers121908578
23andMe allrs121908578
SNP Nexus

SNPshotrs121908578
SNPdbers121908578
MSV3drs121908578
GWAS Ctlgrs121908578
Max Magnitude0
OMIM603647
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908578(T;T)
Alt rs121908578(T;T)
Reference Rs121908578(C;C)
Significance Pathogenic
Disease Bjornstad syndrome with mild mitochondrial complex III deficiency Mitochondrial complex III deficiency not provided
Variation info
Gene BCS1L
CLNDBN Bjornstad syndrome with mild mitochondrial complex III deficiency Mitochondrial complex III deficiency not provided
Reversed 0
HGVS NC_000002.11:g.219526571C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006546.3, RCV000034811.5, RCV000384654.1,