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

rs398122386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs398122386(-;-)
Make rs398122386(-;CTC)
ReferenceGRCh38 38.1/141
Chromosome19
Position50408821
GenePOLD1
is asnp
is mentioned by
dbSNPrs398122386
ebirs398122386
HLIrs398122386
Exacrs398122386
Varsomers398122386
Maprs398122386
PheGenIrs398122386
hapmaprs398122386
1000 genomesrs398122386
hgdprs398122386
ensemblrs398122386
gopubmedrs398122386
geneviewrs398122386
scholarrs398122386
googlers398122386
pharmgkbrs398122386
gwascentralrs398122386
openSNPrs398122386
23andMers398122386
23andMe allrs398122386
SNP Nexus

SNPshotrs398122386
SNPdbers398122386
MSV3drs398122386
GWAS Ctlgrs398122386
Max Magnitude0
ClinVar
Risk rs398122386(;)
Alt rs398122386(;)
Reference rs398122386(CTC;CTC)
Significance Pathogenic
Disease Mandibular hypoplasia
Variation info
Gene POLD1
CLNDBN Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Reversed 0
HGVS NC_000019.9:g.50912078_50912080delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000054542.26,