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rs121913026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913026(C;T)
Make rs121913026(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position45352235
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913026
ebirs121913026
HLIrs121913026
Exacrs121913026
Varsomers121913026
Maprs121913026
PheGenIrs121913026
hapmaprs121913026
1000 genomesrs121913026
hgdprs121913026
ensemblrs121913026
gopubmedrs121913026
geneviewrs121913026
scholarrs121913026
googlers121913026
pharmgkbrs121913026
gwascentralrs121913026
openSNPrs121913026
23andMers121913026
23andMe allrs121913026
SNP Nexus

SNPshotrs121913026
SNPdbers121913026
MSV3drs121913026
GWAS Ctlgrs121913026
Max Magnitude0
OMIM126340
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121913026(T;T)
Alt rs121913026(T;T)
Reference rs121913026(C;C)
Significance Pathogenic
Disease Trichothiodystrophy 1
Variation info
Gene ERCC2
CLNDBN Trichothiodystrophy 1, photosensitive
Reversed 1
HGVS NC_000019.9:g.45855493G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018283.29,