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rs121909485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909485(C;T)
Make rs121909485(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57796539
GeneAVIL, TSFM
is asnp
is mentioned by
dbSNPrs121909485
ebirs121909485
HLIrs121909485
Exacrs121909485
Varsomers121909485
Maprs121909485
PheGenIrs121909485
hapmaprs121909485
1000 genomesrs121909485
hgdprs121909485
ensemblrs121909485
gopubmedrs121909485
geneviewrs121909485
scholarrs121909485
googlers121909485
pharmgkbrs121909485
gwascentralrs121909485
openSNPrs121909485
23andMers121909485
23andMe allrs121909485
SNP Nexus

SNPshotrs121909485
SNPdbers121909485
MSV3drs121909485
GWAS Ctlgrs121909485
Max Magnitude0
OMIM604723
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909485(T;T)
Alt rs121909485(T;T)
Reference rs121909485(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 3
Variation info
Gene TSFM AVIL
CLNDBN Combined oxidative phosphorylation deficiency 3
Reversed 0
HGVS NC_000012.11:g.58190322C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005710.3, RCV000199000.1,