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rs114638163

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs114638163(C;T)
Make rs114638163(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23805994
GeneMIPEP
is asnp
is mentioned by
dbSNPrs114638163
dbSNP (old)rs114638163
ClinGenrs114638163
ebirs114638163
HLIrs114638163
Exacrs114638163
Gnomadrs114638163
Varsomers114638163
Maprs114638163
PheGenIrs114638163
Biobankrs114638163
1000 genomesrs114638163
hgdprs114638163
ensemblrs114638163
gopubmedrs114638163
geneviewrs114638163
scholarrs114638163
googlers114638163
pharmgkbrs114638163
gwascentralrs114638163
openSNPrs114638163
23andMers114638163
23andMe allrs114638163
SNPshotrs114638163
SNPdbers114638163
MSV3drs114638163
GWAS Ctlgrs114638163
Max Magnitude0
ClinVar
Risk rs114638163(A;A) rs114638163(T;T)
Alt rs114638163(A;A) rs114638163(T;T)
Reference Rs114638163(C;C)
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.24380133C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000412565.1,