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rs201889294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201889294(A;A)
Make rs201889294(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position98899282
GeneFBXL4
is asnp
is mentioned by
dbSNPrs201889294
ebirs201889294
HLIrs201889294
Exacrs201889294
Varsomers201889294
Maprs201889294
PheGenIrs201889294
hapmaprs201889294
1000 genomesrs201889294
hgdprs201889294
ensemblrs201889294
gopubmedrs201889294
geneviewrs201889294
scholarrs201889294
googlers201889294
pharmgkbrs201889294
gwascentralrs201889294
openSNPrs201889294
23andMers201889294
23andMe allrs201889294
SNP Nexus

SNPshotrs201889294
SNPdbers201889294
MSV3drs201889294
GWAS Ctlgrs201889294
Max Magnitude0
ClinVar
Risk rs201889294(A;A)
Alt rs201889294(A;A)
Reference rs201889294(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Variation info
Gene FBXL4
CLNDBN Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Reversed 0
HGVS NC_000006.11:g.99347158G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056328.2,