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rs139430866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139430866(C;T)
Make rs139430866(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position158652154
GeneGFM1
is asnp
is mentioned by
dbSNPrs139430866
ebirs139430866
HLIrs139430866
Exacrs139430866
Varsomers139430866
Maprs139430866
PheGenIrs139430866
hapmaprs139430866
1000 genomesrs139430866
hgdprs139430866
ensemblrs139430866
gopubmedrs139430866
geneviewrs139430866
scholarrs139430866
googlers139430866
pharmgkbrs139430866
gwascentralrs139430866
openSNPrs139430866
23andMers139430866
23andMe allrs139430866
SNP Nexus

SNPshotrs139430866
SNPdbers139430866
MSV3drs139430866
GWAS Ctlgrs139430866
Max Magnitude0
ClinVar
Risk rs139430866(T;T)
Alt rs139430866(T;T)
Reference rs139430866(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 1
Variation info
Gene GFM1
CLNDBN Combined oxidative phosphorylation deficiency 1
Reversed 0
HGVS NC_000003.11:g.158369943C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023564.3,