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rs776838028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs776838028(C;T)
Make rs776838028(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218661896
GeneBCS1L
is asnp
is mentioned by
dbSNPrs776838028
dbSNP (classic)rs776838028
ClinGenrs776838028
ebirs776838028
HLIrs776838028
Exacrs776838028
Gnomadrs776838028
Varsomers776838028
LitVarrs776838028
Maprs776838028
PheGenIrs776838028
Biobankrs776838028
1000 genomesrs776838028
hgdprs776838028
ensemblrs776838028
geneviewrs776838028
scholarrs776838028
googlers776838028
pharmgkbrs776838028
gwascentralrs776838028
openSNPrs776838028
23andMers776838028
SNPshotrs776838028
SNPdbers776838028
MSV3drs776838028
GWAS Ctlgrs776838028
Max Magnitude0
ClinVar
Risk rs776838028(T;T)
Alt rs776838028(T;T)
Reference Rs776838028(C;C)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene BCS1L
CLNDBN Mitochondrial complex III deficiency
Reversed 0
HGVS NC_000002.11:g.219526619C>T
CLNSRC
CLNACC RCV000415338.1,