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rs1057519447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519447(C;C)
Make rs1057519447(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position98926570
GeneFBXL4
is asnp
is mentioned by
dbSNPrs1057519447
dbSNP (old)rs1057519447
ClinGenrs1057519447
ebirs1057519447
HLIrs1057519447
Exacrs1057519447
Gnomadrs1057519447
Varsomers1057519447
LitVarrs1057519447
Maprs1057519447
PheGenIrs1057519447
Biobankrs1057519447
1000 genomesrs1057519447
hgdprs1057519447
ensemblrs1057519447
gopubmedrs1057519447
geneviewrs1057519447
scholarrs1057519447
googlers1057519447
pharmgkbrs1057519447
gwascentralrs1057519447
openSNPrs1057519447
23andMers1057519447
23andMe allrs1057519447
SNPshotrs1057519447
SNPdbers1057519447
MSV3drs1057519447
GWAS Ctlgrs1057519447
Max Magnitude0
ClinVar
Risk rs1057519447(C;C)
Alt rs1057519447(C;C)
Reference Rs1057519447(T;T)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Variation info
Gene FBXL4
CLNDBN Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Reversed 1
HGVS NC_000006.11:g.99374446A>G
CLNSRC
CLNACC RCV000416414.1,