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rs121434640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434640(A;A)
Make rs121434640(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47234872
GeneDDB2
is asnp
is mentioned by
dbSNPrs121434640
ebirs121434640
HLIrs121434640
Exacrs121434640
Varsomers121434640
Maprs121434640
PheGenIrs121434640
hapmaprs121434640
1000 genomesrs121434640
hgdprs121434640
ensemblrs121434640
gopubmedrs121434640
geneviewrs121434640
scholarrs121434640
googlers121434640
pharmgkbrs121434640
gwascentralrs121434640
openSNPrs121434640
23andMers121434640
23andMe allrs121434640
SNP Nexus

SNPshotrs121434640
SNPdbers121434640
MSV3drs121434640
GWAS Ctlgrs121434640
Max Magnitude0
OMIM600811
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434640(A;A)
Alt rs121434640(A;A)
Reference rs121434640(G;G)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene DDB2
CLNDBN Xeroderma pigmentosum, group E
Reversed 0
HGVS NC_000011.9:g.47256423G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009333.2,