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rs398122515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122515(A;G)
Make rs398122515(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position132643404
GenePOLE
is asnp
is mentioned by
dbSNPrs398122515
ebirs398122515
HLIrs398122515
Exacrs398122515
Varsomers398122515
Maprs398122515
PheGenIrs398122515
hapmaprs398122515
1000 genomesrs398122515
hgdprs398122515
ensemblrs398122515
gopubmedrs398122515
geneviewrs398122515
scholarrs398122515
googlers398122515
pharmgkbrs398122515
gwascentralrs398122515
openSNPrs398122515
23andMers398122515
23andMe allrs398122515
SNP Nexus

SNPshotrs398122515
SNPdbers398122515
MSV3drs398122515
GWAS Ctlgrs398122515
Max Magnitude0
ClinVar
Risk rs398122515(G;G)
Alt rs398122515(G;G)
Reference rs398122515(A;A)
Significance Pathogenic
Disease Facial dysmorphism
Variation info
Gene POLE
CLNDBN Facial dysmorphism, immunodeficiency, livedo, and short stature
Reversed 1
HGVS NC_000012.11:g.133219990T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000034317.30,