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rs121434641

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434641(C;T)
Make rs121434641(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47235326
GeneDDB2
is asnp
is mentioned by
dbSNPrs121434641
ebirs121434641
HLIrs121434641
Exacrs121434641
Varsomers121434641
Maprs121434641
PheGenIrs121434641
hapmaprs121434641
1000 genomesrs121434641
hgdprs121434641
ensemblrs121434641
gopubmedrs121434641
geneviewrs121434641
scholarrs121434641
googlers121434641
pharmgkbrs121434641
gwascentralrs121434641
openSNPrs121434641
23andMers121434641
23andMe allrs121434641
SNP Nexus

SNPshotrs121434641
SNPdbers121434641
MSV3drs121434641
GWAS Ctlgrs121434641
Max Magnitude0
OMIM600811
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434641(T;T)
Alt rs121434641(T;T)
Reference rs121434641(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene DDB2
CLNDBN Xeroderma pigmentosum, group E
Reversed 0
HGVS NC_000011.9:g.47256877C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009334.2,