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rs121913017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913017(C;T)
Make rs121913017(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position45352223
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913017
ebirs121913017
HLIrs121913017
Exacrs121913017
Varsomers121913017
Maprs121913017
PheGenIrs121913017
hapmaprs121913017
1000 genomesrs121913017
hgdprs121913017
ensemblrs121913017
gopubmedrs121913017
geneviewrs121913017
scholarrs121913017
googlers121913017
pharmgkbrs121913017
gwascentralrs121913017
openSNPrs121913017
23andMers121913017
23andMe allrs121913017
SNP Nexus

SNPshotrs121913017
SNPdbers121913017
MSV3drs121913017
GWAS Ctlgrs121913017
Max Magnitude0
OMIM126340
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913017(T;T)
Alt rs121913017(T;T)
Reference rs121913017(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC2
CLNDBN Xeroderma pigmentosum, group D
Reversed 1
HGVS NC_000019.9:g.45855481G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018269.28,