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

rs56307355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs56307355(A;G)
Make rs56307355(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position43614018
GenePOLH
is asnp
is mentioned by
dbSNPrs56307355
ebirs56307355
HLIrs56307355
Exacrs56307355
Varsomers56307355
Maprs56307355
PheGenIrs56307355
hapmaprs56307355
1000 genomesrs56307355
hgdprs56307355
ensemblrs56307355
gopubmedrs56307355
geneviewrs56307355
scholarrs56307355
googlers56307355
pharmgkbrs56307355
gwascentralrs56307355
openSNPrs56307355
23andMers56307355
23andMe allrs56307355
SNP Nexus

SNPshotrs56307355
SNPdbers56307355
MSV3drs56307355
GWAS Ctlgrs56307355
GMAF0.003673
Max Magnitude0
OMIM603968
Desc
Variant0012
Relatedalso


ClinVar
Risk rs56307355(G;G)
Alt rs56307355(G;G)
Reference Rs56307355(A;A)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene POLH
CLNDBN Xeroderma pigmentosum, variant type
Reversed 0
HGVS NC_000006.11:g.43581755A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006252.2,