Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913016

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913016(C;G)
Make rs121913016(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45357368
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913016
ebirs121913016
HLIrs121913016
Exacrs121913016
Varsomers121913016
Maprs121913016
PheGenIrs121913016
hapmaprs121913016
1000 genomesrs121913016
hgdprs121913016
ensemblrs121913016
gopubmedrs121913016
geneviewrs121913016
scholarrs121913016
googlers121913016
pharmgkbrs121913016
gwascentralrs121913016
openSNPrs121913016
23andMers121913016
23andMe allrs121913016
SNP Nexus

SNPshotrs121913016
SNPdbers121913016
MSV3drs121913016
GWAS Ctlgrs121913016
Max Magnitude0
OMIM126340
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913016(G;G)
Alt rs121913016(G;G)
Reference rs121913016(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum not specified Trichothiodystrophy 1
Variation info
Gene ERCC2
CLNDBN Xeroderma pigmentosum, group D not specified Trichothiodystrophy 1, photosensitive
Reversed 1
HGVS NC_000019.9:g.45860626G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018267.25, RCV000120764.1, RCV000171546.3,