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rs119470018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119470018(A;G)
Make rs119470018(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position158646896
GeneGFM1
is asnp
is mentioned by
dbSNPrs119470018
ebirs119470018
HLIrs119470018
Exacrs119470018
Varsomers119470018
Maprs119470018
PheGenIrs119470018
hapmaprs119470018
1000 genomesrs119470018
hgdprs119470018
ensemblrs119470018
gopubmedrs119470018
geneviewrs119470018
scholarrs119470018
googlers119470018
pharmgkbrs119470018
gwascentralrs119470018
openSNPrs119470018
23andMers119470018
23andMe allrs119470018
SNP Nexus

SNPshotrs119470018
SNPdbers119470018
MSV3drs119470018
GWAS Ctlgrs119470018
Merged fromRs28939098
Max Magnitude0
OMIM606639
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119470018(G;G)
Alt rs119470018(G;G)
Reference rs119470018(A;A)
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.158364685A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004377.3,