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rs121913047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913047(C;T)
Make rs121913047(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127286772
GeneERCC3
is asnp
is mentioned by
dbSNPrs121913047
ebirs121913047
HLIrs121913047
Exacrs121913047
Varsomers121913047
Maprs121913047
PheGenIrs121913047
hapmaprs121913047
1000 genomesrs121913047
hgdprs121913047
ensemblrs121913047
gopubmedrs121913047
geneviewrs121913047
scholarrs121913047
googlers121913047
pharmgkbrs121913047
gwascentralrs121913047
openSNPrs121913047
23andMers121913047
23andMe allrs121913047
SNP Nexus

SNPshotrs121913047
SNPdbers121913047
MSV3drs121913047
GWAS Ctlgrs121913047
Max Magnitude0
OMIM133510
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913047(T;T)
Alt rs121913047(T;T)
Reference rs121913047(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC3
CLNDBN Xeroderma pigmentosum, complementation group b
Reversed 1
HGVS NC_000002.11:g.128044348G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018053.28,