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rs863224936

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224936(C;C)
Make rs863224936(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position57786286
GeneTSFM
is asnp
is mentioned by
dbSNPrs863224936
ebirs863224936
HLIrs863224936
Exacrs863224936
Varsomers863224936
Maprs863224936
PheGenIrs863224936
hapmaprs863224936
1000 genomesrs863224936
hgdprs863224936
ensemblrs863224936
gopubmedrs863224936
geneviewrs863224936
scholarrs863224936
googlers863224936
pharmgkbrs863224936
gwascentralrs863224936
openSNPrs863224936
23andMers863224936
23andMe allrs863224936
SNP Nexus

SNPshotrs863224936
SNPdbers863224936
MSV3drs863224936
GWAS Ctlgrs863224936
Max Magnitude0
ClinVar
Risk rs863224936(C;C)
Alt rs863224936(C;C)
Reference rs863224936(G;G)
Significance Probable-Pathogenic
Disease Combined oxidative phosphorylation deficiency 3
Variation info
Gene TSFM
CLNDBN Combined oxidative phosphorylation deficiency 3
Reversed 0
HGVS NC_000012.11:g.58180069G>C
CLNSRC
CLNACC RCV000199000.1,