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rs121908580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908580(A;G)
Make rs121908580(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661135
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs121908580
ebirs121908580
HLIrs121908580
Exacrs121908580
Varsomers121908580
Maprs121908580
PheGenIrs121908580
hapmaprs121908580
1000 genomesrs121908580
hgdprs121908580
ensemblrs121908580
gopubmedrs121908580
geneviewrs121908580
scholarrs121908580
googlers121908580
pharmgkbrs121908580
gwascentralrs121908580
openSNPrs121908580
23andMers121908580
23andMe allrs121908580
SNP Nexus

SNPshotrs121908580
SNPdbers121908580
MSV3drs121908580
GWAS Ctlgrs121908580
Max Magnitude0
OMIM603647
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908580(G;G)
Alt rs121908580(G;G)
Reference rs121908580(A;A)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene ZNF142 BCS1L
CLNDBN Mitochondrial complex III deficiency
Reversed 0
HGVS NC_000002.11:g.219525858A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006549.4,