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rs104893873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893873(C;C)
Make rs104893873(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position185144992
GeneSLC25A4
is asnp
is mentioned by
dbSNPrs104893873
ebirs104893873
HLIrs104893873
Exacrs104893873
Varsomers104893873
Maprs104893873
PheGenIrs104893873
hapmaprs104893873
1000 genomesrs104893873
hgdprs104893873
ensemblrs104893873
gopubmedrs104893873
geneviewrs104893873
scholarrs104893873
googlers104893873
pharmgkbrs104893873
gwascentralrs104893873
openSNPrs104893873
23andMers104893873
23andMe allrs104893873
SNP Nexus

SNPshotrs104893873
SNPdbers104893873
MSV3drs104893873
GWAS Ctlgrs104893873
Max Magnitude0
OMIM103220
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893873(C;C)
Alt rs104893873(C;C)
Reference rs104893873(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.186066146G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019907.27,