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rs119470019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119470019(C;T)
Make rs119470019(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position158645686
GeneGFM1
is asnp
is mentioned by
dbSNPrs119470019
ebirs119470019
HLIrs119470019
Exacrs119470019
Varsomers119470019
Maprs119470019
PheGenIrs119470019
hapmaprs119470019
1000 genomesrs119470019
hgdprs119470019
ensemblrs119470019
gopubmedrs119470019
geneviewrs119470019
scholarrs119470019
googlers119470019
pharmgkbrs119470019
gwascentralrs119470019
openSNPrs119470019
23andMers119470019
23andMe allrs119470019
SNP Nexus

SNPshotrs119470019
SNPdbers119470019
MSV3drs119470019
GWAS Ctlgrs119470019
Max Magnitude0
OMIM606639
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119470019(T;T)
Alt rs119470019(T;T)
Reference rs119470019(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.158363475C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004378.4,