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

rs121913018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913018(C;C)
Make rs121913018(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45352226
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913018
ebirs121913018
HLIrs121913018
Exacrs121913018
Varsomers121913018
Maprs121913018
PheGenIrs121913018
hapmaprs121913018
1000 genomesrs121913018
hgdprs121913018
ensemblrs121913018
gopubmedrs121913018
geneviewrs121913018
scholarrs121913018
googlers121913018
pharmgkbrs121913018
gwascentralrs121913018
openSNPrs121913018
23andMers121913018
23andMe allrs121913018
SNP Nexus

SNPshotrs121913018
SNPdbers121913018
MSV3drs121913018
GWAS Ctlgrs121913018
Max Magnitude0
OMIM126340
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913018(C;C)
Alt rs121913018(C;C)
Reference rs121913018(G;G)
Significance Pathogenic
Disease Trichothiodystrophy 1
Variation info
Gene ERCC2
CLNDBN Trichothiodystrophy 1, photosensitive
Reversed 1
HGVS NC_000019.9:g.45855484C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018270.28,