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rs398124642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124642(-;-)
Make rs398124642(-;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position119162359
GeneSFXN4
is asnp
is mentioned by
dbSNPrs398124642
ebirs398124642
HLIrs398124642
Exacrs398124642
Varsomers398124642
Maprs398124642
PheGenIrs398124642
hapmaprs398124642
1000 genomesrs398124642
hgdprs398124642
ensemblrs398124642
gopubmedrs398124642
geneviewrs398124642
scholarrs398124642
googlers398124642
pharmgkbrs398124642
gwascentralrs398124642
openSNPrs398124642
23andMers398124642
23andMe allrs398124642
SNP Nexus

SNPshotrs398124642
SNPdbers398124642
MSV3drs398124642
GWAS Ctlgrs398124642
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs398124642(C;C)
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.120921871delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000077774.2,