Have questions? Visit https://www.reddit.com/r/SNPedia

rs119470020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119470020(G;G)
Make rs119470020(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position158665443
GeneGFM1
is asnp
is mentioned by
dbSNPrs119470020
ebirs119470020
HLIrs119470020
Exacrs119470020
Varsomers119470020
Maprs119470020
PheGenIrs119470020
hapmaprs119470020
1000 genomesrs119470020
hgdprs119470020
ensemblrs119470020
gopubmedrs119470020
geneviewrs119470020
scholarrs119470020
googlers119470020
pharmgkbrs119470020
gwascentralrs119470020
openSNPrs119470020
23andMers119470020
23andMe allrs119470020
SNP Nexus

SNPshotrs119470020
SNPdbers119470020
MSV3drs119470020
GWAS Ctlgrs119470020
Max Magnitude0
OMIM606639
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119470020(G;G)
Alt rs119470020(G;G)
Reference rs119470020(T;T)
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.158383232T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004379.4,