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rs104893874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893874(A;A)
Make rs104893874(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position185146939
GeneSLC25A4
is asnp
is mentioned by
dbSNPrs104893874
ebirs104893874
HLIrs104893874
Exacrs104893874
Varsomers104893874
Maprs104893874
PheGenIrs104893874
hapmaprs104893874
1000 genomesrs104893874
hgdprs104893874
ensemblrs104893874
gopubmedrs104893874
geneviewrs104893874
scholarrs104893874
googlers104893874
pharmgkbrs104893874
gwascentralrs104893874
openSNPrs104893874
23andMers104893874
23andMe allrs104893874
SNP Nexus

SNPshotrs104893874
SNPdbers104893874
MSV3drs104893874
GWAS Ctlgrs104893874
Max Magnitude0
OMIM103220
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893874(A;A)
Alt rs104893874(A;A)
Reference rs104893874(G;G)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
Variation info
Gene SLC25A4
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
Reversed 0
HGVS NC_000004.11:g.186068093G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019908.27,