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rs1057518740

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518740(A;A)
Make rs1057518740(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23886484
GeneMIPEP
is asnp
is mentioned by
dbSNPrs1057518740
dbSNP (old)rs1057518740
ClinGenrs1057518740
ebirs1057518740
HLIrs1057518740
Exacrs1057518740
Gnomadrs1057518740
Varsomers1057518740
Maprs1057518740
PheGenIrs1057518740
Biobankrs1057518740
1000 genomesrs1057518740
hgdprs1057518740
ensemblrs1057518740
gopubmedrs1057518740
geneviewrs1057518740
scholarrs1057518740
googlers1057518740
pharmgkbrs1057518740
gwascentralrs1057518740
openSNPrs1057518740
23andMers1057518740
23andMe allrs1057518740
SNPshotrs1057518740
SNPdbers1057518740
MSV3drs1057518740
GWAS Ctlgrs1057518740
Max Magnitude0
ClinVar
Risk rs1057518740(A;A)
Alt rs1057518740(A;A)
Reference Rs1057518740(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.24460623A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412643.1,