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rs121908579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908579(C;C)
Make rs121908579(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661090
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs121908579
ebirs121908579
HLIrs121908579
Exacrs121908579
Varsomers121908579
Maprs121908579
PheGenIrs121908579
hapmaprs121908579
1000 genomesrs121908579
hgdprs121908579
ensemblrs121908579
gopubmedrs121908579
geneviewrs121908579
scholarrs121908579
googlers121908579
pharmgkbrs121908579
gwascentralrs121908579
openSNPrs121908579
23andMers121908579
23andMe allrs121908579
SNP Nexus

SNPshotrs121908579
SNPdbers121908579
MSV3drs121908579
GWAS Ctlgrs121908579
Max Magnitude0
OMIM603647
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908579(C;C)
Alt rs121908579(C;C)
Reference rs121908579(G;G)
Significance Pathogenic
Disease Bjornstad syndrome with mild mitochondrial complex III deficiency
Variation info
Gene ZNF142 BCS1L
CLNDBN Bjornstad syndrome with mild mitochondrial complex III deficiency
Reversed 0
HGVS NC_000002.11:g.219525813G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006548.2,