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rs121913045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913045(C;C)
Make rs121913045(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127292785
GeneERCC3
is asnp
is mentioned by
dbSNPrs121913045
ebirs121913045
HLIrs121913045
Exacrs121913045
Varsomers121913045
Maprs121913045
PheGenIrs121913045
hapmaprs121913045
1000 genomesrs121913045
hgdprs121913045
ensemblrs121913045
gopubmedrs121913045
geneviewrs121913045
scholarrs121913045
googlers121913045
pharmgkbrs121913045
gwascentralrs121913045
openSNPrs121913045
23andMers121913045
23andMe allrs121913045
SNP Nexus

SNPshotrs121913045
SNPdbers121913045
MSV3drs121913045
GWAS Ctlgrs121913045
Max Magnitude0
OMIM133510
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913045(C;C)
Alt rs121913045(C;C)
Reference rs121913045(T;T)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC3
CLNDBN Xeroderma pigmentosum, complementation group b
Reversed 1
HGVS NC_000002.11:g.128050361A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018051.24,