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rs143912947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143912947(A;A)
Make rs143912947(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23869319
GeneMIPEP
is asnp
is mentioned by
dbSNPrs143912947
dbSNP (old)rs143912947
ClinGenrs143912947
ebirs143912947
HLIrs143912947
Exacrs143912947
Gnomadrs143912947
Varsomers143912947
LitVarrs143912947
Maprs143912947
PheGenIrs143912947
Biobankrs143912947
1000 genomesrs143912947
hgdprs143912947
ensemblrs143912947
gopubmedrs143912947
geneviewrs143912947
scholarrs143912947
googlers143912947
pharmgkbrs143912947
gwascentralrs143912947
openSNPrs143912947
23andMers143912947
23andMe allrs143912947
SNPshotrs143912947
SNPdbers143912947
MSV3drs143912947
GWAS Ctlgrs143912947
Max Magnitude0
ClinVar
Risk rs143912947(A;A)
Alt rs143912947(A;A)
Reference Rs143912947(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.24443458G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000412517.1,