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rs121434639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434639(A;G)
Make rs121434639(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47234784
GeneDDB2
is asnp
is mentioned by
dbSNPrs121434639
ebirs121434639
HLIrs121434639
Exacrs121434639
Varsomers121434639
Maprs121434639
PheGenIrs121434639
hapmaprs121434639
1000 genomesrs121434639
hgdprs121434639
ensemblrs121434639
gopubmedrs121434639
geneviewrs121434639
scholarrs121434639
googlers121434639
pharmgkbrs121434639
gwascentralrs121434639
openSNPrs121434639
23andMers121434639
23andMe allrs121434639
SNP Nexus

SNPshotrs121434639
SNPdbers121434639
MSV3drs121434639
GWAS Ctlgrs121434639
Max Magnitude0
OMIM600811
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434639(G;G)
Alt rs121434639(G;G)
Reference rs121434639(A;A)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene DDB2
CLNDBN Xeroderma pigmentosum, group E
Reversed 0
HGVS NC_000011.9:g.47256335A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009332.2,