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rs1057518741

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518741(A;G)
Make rs1057518741(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23862328
GeneMIPEP
is asnp
is mentioned by
dbSNPrs1057518741
dbSNP (old)rs1057518741
ClinGenrs1057518741
ebirs1057518741
HLIrs1057518741
Exacrs1057518741
Gnomadrs1057518741
Varsomers1057518741
Maprs1057518741
PheGenIrs1057518741
Biobankrs1057518741
1000 genomesrs1057518741
hgdprs1057518741
ensemblrs1057518741
gopubmedrs1057518741
geneviewrs1057518741
scholarrs1057518741
googlers1057518741
pharmgkbrs1057518741
gwascentralrs1057518741
openSNPrs1057518741
23andMers1057518741
23andMe allrs1057518741
SNPshotrs1057518741
SNPdbers1057518741
MSV3drs1057518741
GWAS Ctlgrs1057518741
Max Magnitude0
ClinVar
Risk rs1057518741(G;G)
Alt rs1057518741(G;G)
Reference Rs1057518741(A;A)
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.24436467T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412622.1,