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rs191462023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs191462023(A;A)
Make rs191462023(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position158649090
GeneGFM1
is asnp
is mentioned by
dbSNPrs191462023
dbSNP (old)rs191462023
ClinGenrs191462023
ebirs191462023
HLIrs191462023
Exacrs191462023
Gnomadrs191462023
Varsomers191462023
Maprs191462023
PheGenIrs191462023
Biobankrs191462023
1000 genomesrs191462023
hgdprs191462023
ensemblrs191462023
gopubmedrs191462023
geneviewrs191462023
scholarrs191462023
googlers191462023
pharmgkbrs191462023
gwascentralrs191462023
openSNPrs191462023
23andMers191462023
23andMe allrs191462023
SNP Nexus

SNPshotrs191462023
SNPdbers191462023
MSV3drs191462023
GWAS Ctlgrs191462023
Max Magnitude0
ClinVar
Risk rs191462023(A;A)
Alt rs191462023(A;A)
Reference Rs191462023(G;G)
Significance Probable-Pathogenic
Disease not provided Combined oxidative phosphorylation deficiency
Variation info
Gene GFM1
CLNDBN not provided Combined oxidative phosphorylation deficiency
Reversed 0
HGVS NC_000003.11:g.158366879G>A
CLNSRC
CLNACC RCV000198516.2, RCV000273469.1,