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rs121913020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913020(A;A)
Make rs121913020(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45368655
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913020
ebirs121913020
HLIrs121913020
Exacrs121913020
Varsomers121913020
Maprs121913020
PheGenIrs121913020
hapmaprs121913020
1000 genomesrs121913020
hgdprs121913020
ensemblrs121913020
gopubmedrs121913020
geneviewrs121913020
scholarrs121913020
googlers121913020
pharmgkbrs121913020
gwascentralrs121913020
openSNPrs121913020
23andMers121913020
23andMe allrs121913020
SNP Nexus

SNPshotrs121913020
SNPdbers121913020
MSV3drs121913020
GWAS Ctlgrs121913020
Max Magnitude0
OMIM126340
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121913020(A;A)
Alt rs121913020(A;A)
Reference rs121913020(G;G)
Significance Pathogenic
Disease Trichothiodystrophy 1 Xeroderma pigmentosum
Variation info
Gene ERCC2
CLNDBN Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D
Reversed 1
HGVS NC_000019.9:g.45871913C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018273.25, RCV000018274.29,