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rs121908563

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908563(C;T)
Make rs121908563(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position43587375
GenePOLH
is asnp
is mentioned by
dbSNPrs121908563
dbSNP (classic)rs121908563
ClinGenrs121908563
ebirs121908563
HLIrs121908563
Exacrs121908563
Gnomadrs121908563
Varsomers121908563
LitVarrs121908563
Maprs121908563
PheGenIrs121908563
Biobankrs121908563
1000 genomesrs121908563
hgdprs121908563
ensemblrs121908563
geneviewrs121908563
scholarrs121908563
googlers121908563
pharmgkbrs121908563
gwascentralrs121908563
openSNPrs121908563
23andMers121908563
SNPshotrs121908563
SNPdbers121908563
MSV3drs121908563
GWAS Ctlgrs121908563
Max Magnitude0
OMIM603968
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908563(T;T)
Alt rs121908563(T;T)
Reference Rs121908563(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene POLH
CLNDBN Xeroderma pigmentosum, variant type
Reversed 0
HGVS NC_000006.11:g.43555112C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006247.2,