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rs121913025

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913025(C;C)
Make rs121913025(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position45357295
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913025
ebirs121913025
HLIrs121913025
Exacrs121913025
Varsomers121913025
Maprs121913025
PheGenIrs121913025
hapmaprs121913025
1000 genomesrs121913025
hgdprs121913025
ensemblrs121913025
gopubmedrs121913025
geneviewrs121913025
scholarrs121913025
googlers121913025
pharmgkbrs121913025
gwascentralrs121913025
openSNPrs121913025
23andMers121913025
23andMe allrs121913025
SNP Nexus

SNPshotrs121913025
SNPdbers121913025
MSV3drs121913025
GWAS Ctlgrs121913025
Max Magnitude0
OMIM126340
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121913025(C;C)
Alt rs121913025(C;C)
Reference rs121913025(T;T)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC2
CLNDBN Xeroderma pigmentosum, group D
Reversed 1
HGVS NC_000019.9:g.45860553A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018282.28,