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rs121913022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913022(C;C)
Make rs121913022(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45352262
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913022
ebirs121913022
HLIrs121913022
Exacrs121913022
Varsomers121913022
Maprs121913022
PheGenIrs121913022
hapmaprs121913022
1000 genomesrs121913022
hgdprs121913022
ensemblrs121913022
gopubmedrs121913022
geneviewrs121913022
scholarrs121913022
googlers121913022
pharmgkbrs121913022
gwascentralrs121913022
openSNPrs121913022
23andMers121913022
23andMe allrs121913022
SNP Nexus

SNPshotrs121913022
SNPdbers121913022
MSV3drs121913022
GWAS Ctlgrs121913022
Max Magnitude0
OMIM126340
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121913022(C;C)
Alt rs121913022(C;C)
Reference rs121913022(G;G)
Significance Pathogenic
Disease Trichothiodystrophy 1
Variation info
Gene ERCC2
CLNDBN Trichothiodystrophy 1, photosensitive
Reversed 1
HGVS NC_000019.9:g.45855520C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018276.29,