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rs587777688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777688(A;A)
Make rs587777688(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position57796549
GeneAVIL, TSFM
is asnp
is mentioned by
dbSNPrs587777688
ebirs587777688
HLIrs587777688
Exacrs587777688
Varsomers587777688
Maprs587777688
PheGenIrs587777688
hapmaprs587777688
1000 genomesrs587777688
hgdprs587777688
ensemblrs587777688
gopubmedrs587777688
geneviewrs587777688
scholarrs587777688
googlers587777688
pharmgkbrs587777688
gwascentralrs587777688
openSNPrs587777688
23andMers587777688
23andMe allrs587777688
SNP Nexus

SNPshotrs587777688
SNPdbers587777688
MSV3drs587777688
GWAS Ctlgrs587777688
Max Magnitude0
ClinVar
Risk rs587777688(A;A)
Alt rs587777688(A;A)
Reference rs587777688(G;G)
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.58190332G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000143784.3,