Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893876(C;C)
Make rs104893876(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position185144945
GeneSLC25A4
is asnp
is mentioned by
dbSNPrs104893876
ebirs104893876
HLIrs104893876
Exacrs104893876
Varsomers104893876
Maprs104893876
PheGenIrs104893876
hapmaprs104893876
1000 genomesrs104893876
hgdprs104893876
ensemblrs104893876
gopubmedrs104893876
geneviewrs104893876
scholarrs104893876
googlers104893876
pharmgkbrs104893876
gwascentralrs104893876
openSNPrs104893876
23andMers104893876
23andMe allrs104893876
SNP Nexus

SNPshotrs104893876
SNPdbers104893876
MSV3drs104893876
GWAS Ctlgrs104893876
Max Magnitude0
OMIM103220
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893876(C;C)
Alt rs104893876(C;C)
Reference rs104893876(T;T)
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.186066099T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019909.27,