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rs121908576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908576(C;T)
Make rs121908576(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661153
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs121908576
dbSNP (classic)rs121908576
ClinGenrs121908576
ebirs121908576
HLIrs121908576
Exacrs121908576
Gnomadrs121908576
Varsomers121908576
LitVarrs121908576
Maprs121908576
PheGenIrs121908576
Biobankrs121908576
1000 genomesrs121908576
hgdprs121908576
ensemblrs121908576
geneviewrs121908576
scholarrs121908576
googlers121908576
pharmgkbrs121908576
gwascentralrs121908576
openSNPrs121908576
23andMers121908576
SNPshotrs121908576
SNPdbers121908576
MSV3drs121908576
GWAS Ctlgrs121908576
Max Magnitude0
OMIM603647
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908576(T;T)
Alt rs121908576(T;T)
Reference Rs121908576(C;C)
Significance Pathogenic
Disease Mitochondrial complex III deficiency not provided BCS1L-Related Disorders
Variation info
Gene ZNF142 BCS1L
CLNDBN Mitochondrial complex III deficiency not provided BCS1L-Related Disorders
Reversed 0
HGVS NC_000002.11:g.219525876C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006544.5, RCV000195481.3, RCV000260660.1,