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rs779598020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779598020(C;C)
Make rs779598020(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23837561
GeneMIPEP
is asnp
is mentioned by
dbSNPrs779598020
dbSNP (classic)rs779598020
ClinGenrs779598020
ebirs779598020
HLIrs779598020
Exacrs779598020
Gnomadrs779598020
Varsomers779598020
LitVarrs779598020
Maprs779598020
PheGenIrs779598020
Biobankrs779598020
1000 genomesrs779598020
hgdprs779598020
ensemblrs779598020
geneviewrs779598020
scholarrs779598020
googlers779598020
pharmgkbrs779598020
gwascentralrs779598020
openSNPrs779598020
23andMers779598020
SNPshotrs779598020
SNPdbers779598020
MSV3drs779598020
GWAS Ctlgrs779598020
Max Magnitude0
ClinVar
Risk rs779598020(C;C)
Alt rs779598020(C;C)
Reference Rs779598020(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 31
Variation info
Gene MIPEP
CLNDBN Combined oxidative phosphorylation deficiency 31
Reversed 0
HGVS NC_000013.10:g.24411700G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412519.1,