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rs28999114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28999114(A;G)
Make rs28999114(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position185144963
GeneSLC25A4
is asnp
is mentioned by
dbSNPrs28999114
ebirs28999114
HLIrs28999114
Exacrs28999114
Varsomers28999114
Maprs28999114
PheGenIrs28999114
hapmaprs28999114
1000 genomesrs28999114
hgdprs28999114
ensemblrs28999114
gopubmedrs28999114
geneviewrs28999114
scholarrs28999114
googlers28999114
pharmgkbrs28999114
gwascentralrs28999114
openSNPrs28999114
23andMers28999114
23andMe allrs28999114
SNP Nexus

SNPshotrs28999114
SNPdbers28999114
MSV3drs28999114
GWAS Ctlgrs28999114
Max Magnitude0
OMIM103220
DescPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2
Variant0004
Relatedalso


ClinVar
Risk rs28999114(G;G)
Alt rs28999114(G;G)
Reference rs28999114(A;A)
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.186066117A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019910.28,