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rs121908573

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908573(C;C)
Make rs121908573(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661762
GeneBCS1L
is asnp
is mentioned by
dbSNPrs121908573
ebirs121908573
HLIrs121908573
Exacrs121908573
Varsomers121908573
Maprs121908573
PheGenIrs121908573
hapmaprs121908573
1000 genomesrs121908573
hgdprs121908573
ensemblrs121908573
gopubmedrs121908573
geneviewrs121908573
scholarrs121908573
googlers121908573
pharmgkbrs121908573
gwascentralrs121908573
openSNPrs121908573
23andMers121908573
23andMe allrs121908573
SNP Nexus

SNPshotrs121908573
SNPdbers121908573
MSV3drs121908573
GWAS Ctlgrs121908573
Max Magnitude0
OMIM603647
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908573(C;C)
Alt rs121908573(C;C)
Reference rs121908573(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.219526485G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006540.4,