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rs121908572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908572(C;T)
Make rs121908572(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661283
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs121908572
ebirs121908572
HLIrs121908572
Exacrs121908572
Varsomers121908572
Maprs121908572
PheGenIrs121908572
hapmaprs121908572
1000 genomesrs121908572
hgdprs121908572
ensemblrs121908572
gopubmedrs121908572
geneviewrs121908572
scholarrs121908572
googlers121908572
pharmgkbrs121908572
gwascentralrs121908572
openSNPrs121908572
23andMers121908572
23andMe allrs121908572
SNP Nexus

SNPshotrs121908572
SNPdbers121908572
MSV3drs121908572
GWAS Ctlgrs121908572
Max Magnitude0
OMIM603647
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908572(T;T)
Alt rs121908572(T;T)
Reference rs121908572(C;C)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex III deficiency
Variation info
Gene ZNF142 BCS1L
CLNDBN Leigh syndrome due to mitochondrial complex III deficiency
Reversed 0
HGVS NC_000002.11:g.219526006C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006539.3,