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rs121434642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434642(G;T)
Make rs121434642(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47235308
GeneDDB2
is asnp
is mentioned by
dbSNPrs121434642
ebirs121434642
HLIrs121434642
Exacrs121434642
Varsomers121434642
Maprs121434642
PheGenIrs121434642
hapmaprs121434642
1000 genomesrs121434642
hgdprs121434642
ensemblrs121434642
gopubmedrs121434642
geneviewrs121434642
scholarrs121434642
googlers121434642
pharmgkbrs121434642
gwascentralrs121434642
openSNPrs121434642
23andMers121434642
23andMe allrs121434642
SNP Nexus

SNPshotrs121434642
SNPdbers121434642
MSV3drs121434642
GWAS Ctlgrs121434642
Max Magnitude0
OMIM600811
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434642(T;T)
Alt rs121434642(T;T)
Reference rs121434642(G;G)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene DDB2
CLNDBN Xeroderma pigmentosum, group E
Reversed 0
HGVS NC_000011.9:g.47256859G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009335.3,