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rs113994101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 3 Carrier of a POLG mutation
Make rs113994101(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position89317388
GeneFANCI, POLG
is asnp
is mentioned by
dbSNPrs113994101
dbSNP (classic)rs113994101
ClinGenrs113994101
ebirs113994101
HLIrs113994101
Exacrs113994101
Gnomadrs113994101
Varsomers113994101
LitVarrs113994101
Maprs113994101
PheGenIrs113994101
Biobankrs113994101
1000 genomesrs113994101
hgdprs113994101
ensemblrs113994101
geneviewrs113994101
scholarrs113994101
googlers113994101
pharmgkbrs113994101
gwascentralrs113994101
openSNPrs113994101
23andMers113994101
SNPshotrs113994101
SNPdbers113994101
MSV3drs113994101
GWAS Ctlgrs113994101
Max Magnitude3
ClinVar
Risk rs113994101(C;C)
Alt rs113994101(C;C)
Reference Rs113994101(-;-)
Significance Pathogenic
Disease Mitochondrial diseases
Variation info
Gene POLG FANCI
CLNDBN Mitochondrial diseases
Reversed 1
HGVS NC_000015.9:g.89860620dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020479.1,