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rs398124643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398124643(-;-)
Make rs398124643(-;T)
Make rs398124643(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position119147853
GeneSFXN4
is asnp
is mentioned by
dbSNPrs398124643
ebirs398124643
HLIrs398124643
Exacrs398124643
Varsomers398124643
Maprs398124643
PheGenIrs398124643
hapmaprs398124643
1000 genomesrs398124643
hgdprs398124643
ensemblrs398124643
gopubmedrs398124643
geneviewrs398124643
scholarrs398124643
googlers398124643
pharmgkbrs398124643
gwascentralrs398124643
openSNPrs398124643
23andMers398124643
23andMe allrs398124643
SNP Nexus

SNPshotrs398124643
SNPdbers398124643
MSV3drs398124643
GWAS Ctlgrs398124643
Max Magnitude0
ClinVar
Risk rs398124643(T;T)
Alt rs398124643(T;T)
Reference rs398124643(;)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 18
Variation info
Gene SFXN4
CLNDBN Combined oxidative phosphorylation deficiency 18
Reversed 1
HGVS NC_000010.10:g.120907366dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000077775.3,