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rs1057518739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518739(G;G)
Make rs1057518739(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23806053
GeneMIPEP
is asnp
is mentioned by
dbSNPrs1057518739
dbSNP (old)rs1057518739
ClinGenrs1057518739
ebirs1057518739
HLIrs1057518739
Exacrs1057518739
Gnomadrs1057518739
Varsomers1057518739
LitVarrs1057518739
Maprs1057518739
PheGenIrs1057518739
Biobankrs1057518739
1000 genomesrs1057518739
hgdprs1057518739
ensemblrs1057518739
gopubmedrs1057518739
geneviewrs1057518739
scholarrs1057518739
googlers1057518739
pharmgkbrs1057518739
gwascentralrs1057518739
openSNPrs1057518739
23andMers1057518739
23andMe allrs1057518739
SNPshotrs1057518739
SNPdbers1057518739
MSV3drs1057518739
GWAS Ctlgrs1057518739
Max Magnitude0
ClinVar
Risk rs1057518739(G;G)
Alt rs1057518739(G;G)
Reference Rs1057518739(T;T)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 31
Variation info
Gene MIPEP
CLNDBN Combined oxidative phosphorylation deficiency 31
Reversed 1
HGVS NC_000013.10:g.24380192A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412562.1,