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rs367932369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367932369(C;T)
Make rs367932369(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position119157870
GeneSFXN4
is asnp
is mentioned by
dbSNPrs367932369
dbSNP (classic)rs367932369
ClinGenrs367932369
ebirs367932369
HLIrs367932369
Exacrs367932369
Gnomadrs367932369
Varsomers367932369
LitVarrs367932369
Maprs367932369
PheGenIrs367932369
Biobankrs367932369
1000 genomesrs367932369
hgdprs367932369
ensemblrs367932369
geneviewrs367932369
scholarrs367932369
googlers367932369
pharmgkbrs367932369
gwascentralrs367932369
openSNPrs367932369
23andMers367932369
SNPshotrs367932369
SNPdbers367932369
MSV3drs367932369
GWAS Ctlgrs367932369
Max Magnitude0
ClinVar
Risk rs367932369(T;T)
Alt rs367932369(T;T)
Reference Rs367932369(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 18
Variation info
Gene SFXN4
CLNDBN Combined oxidative phosphorylation deficiency 18
Reversed 0
HGVS NC_000010.10:g.120917382C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000077776.3,