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rs121908574

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908574(A;A)
Make rs121908574(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218663183
GeneBCS1L
is asnp
is mentioned by
dbSNPrs121908574
ebirs121908574
HLIrs121908574
Exacrs121908574
Varsomers121908574
Maprs121908574
PheGenIrs121908574
hapmaprs121908574
1000 genomesrs121908574
hgdprs121908574
ensemblrs121908574
gopubmedrs121908574
geneviewrs121908574
scholarrs121908574
googlers121908574
pharmgkbrs121908574
gwascentralrs121908574
openSNPrs121908574
23andMers121908574
23andMe allrs121908574
SNP Nexus

SNPshotrs121908574
SNPdbers121908574
MSV3drs121908574
GWAS Ctlgrs121908574
Max Magnitude0
OMIM603647
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908574(A;A)
Alt rs121908574(A;A)
Reference rs121908574(G;G)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene BCS1L
CLNDBN Mitochondrial complex III deficiency
Reversed 0
HGVS NC_000002.11:g.219527906G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006541.3,