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rs121913021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913021(C;T)
Make rs121913021(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position45352580
GeneERCC2
is asnp
is mentioned by
dbSNPrs121913021
ebirs121913021
HLIrs121913021
Exacrs121913021
Varsomers121913021
Maprs121913021
PheGenIrs121913021
hapmaprs121913021
1000 genomesrs121913021
hgdprs121913021
ensemblrs121913021
gopubmedrs121913021
geneviewrs121913021
scholarrs121913021
googlers121913021
pharmgkbrs121913021
gwascentralrs121913021
openSNPrs121913021
23andMers121913021
23andMe allrs121913021
SNP Nexus

SNPshotrs121913021
SNPdbers121913021
MSV3drs121913021
GWAS Ctlgrs121913021
Max Magnitude0
OMIM126340
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913021(T;T)
Alt rs121913021(T;T)
Reference rs121913021(C;C)
Significance Pathogenic
Disease Trichothiodystrophy 1
Variation info
Gene ERCC2
CLNDBN Trichothiodystrophy 1, photosensitive
Reversed 1
HGVS NC_000019.9:g.45855838G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018275.28,