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rs121913019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913019(A;C)
Make rs121913019(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position45354774
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913019
ebirs121913019
HLIrs121913019
Exacrs121913019
Varsomers121913019
Maprs121913019
PheGenIrs121913019
hapmaprs121913019
1000 genomesrs121913019
hgdprs121913019
ensemblrs121913019
gopubmedrs121913019
geneviewrs121913019
scholarrs121913019
googlers121913019
pharmgkbrs121913019
gwascentralrs121913019
openSNPrs121913019
23andMers121913019
23andMe allrs121913019
SNP Nexus

SNPshotrs121913019
SNPdbers121913019
MSV3drs121913019
GWAS Ctlgrs121913019
GMAF0.0004591
Max Magnitude0
OMIM126340
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913019(C;C)
Alt rs121913019(C;C)
Reference rs121913019(A;A)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC2
CLNDBN Xeroderma pigmentosum, group D
Reversed 1
HGVS NC_000019.9:g.45858032T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018272.29,