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rs121908571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908571(A;A)
Make rs121908571(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218662620
GeneBCS1L
is asnp
is mentioned by
dbSNPrs121908571
ebirs121908571
HLIrs121908571
Exacrs121908571
Varsomers121908571
Maprs121908571
PheGenIrs121908571
hapmaprs121908571
1000 genomesrs121908571
hgdprs121908571
ensemblrs121908571
gopubmedrs121908571
geneviewrs121908571
scholarrs121908571
googlers121908571
pharmgkbrs121908571
gwascentralrs121908571
openSNPrs121908571
23andMers121908571
23andMe allrs121908571
SNP Nexus

SNPshotrs121908571
SNPdbers121908571
MSV3drs121908571
GWAS Ctlgrs121908571
Max Magnitude0
OMIM603647
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908571(A;A)
Alt rs121908571(A;A)
Reference rs121908571(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.219527343G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006538.3,