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rs121908575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908575(C;T)
Make rs121908575(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661120
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs121908575
ebirs121908575
HLIrs121908575
Exacrs121908575
Varsomers121908575
Maprs121908575
PheGenIrs121908575
hapmaprs121908575
1000 genomesrs121908575
hgdprs121908575
ensemblrs121908575
gopubmedrs121908575
geneviewrs121908575
scholarrs121908575
googlers121908575
pharmgkbrs121908575
gwascentralrs121908575
openSNPrs121908575
23andMers121908575
23andMe allrs121908575
SNP Nexus

SNPshotrs121908575
SNPdbers121908575
MSV3drs121908575
GWAS Ctlgrs121908575
Max Magnitude0
OMIM603647
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908575(G,T;G,T)
Alt rs121908575(G,T;G,T)
Reference rs121908575(C;C)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene ZNF142 BCS1L
CLNDBN Mitochondrial complex III deficiency
Reversed 0
HGVS NC_000002.11:g.219525843C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006543.4,