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rs121913046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913046(A;C)
Make rs121913046(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position127292726
GeneERCC3
is asnp
is mentioned by
dbSNPrs121913046
ebirs121913046
HLIrs121913046
Exacrs121913046
Varsomers121913046
Maprs121913046
PheGenIrs121913046
hapmaprs121913046
1000 genomesrs121913046
hgdprs121913046
ensemblrs121913046
gopubmedrs121913046
geneviewrs121913046
scholarrs121913046
googlers121913046
pharmgkbrs121913046
gwascentralrs121913046
openSNPrs121913046
23andMers121913046
23andMe allrs121913046
SNP Nexus

SNPshotrs121913046
SNPdbers121913046
MSV3drs121913046
GWAS Ctlgrs121913046
Max Magnitude0
OMIM133510
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913046(C;C)
Alt rs121913046(C;C)
Reference rs121913046(A;A)
Significance Pathogenic
Disease Trichothiodystrophy 2
Variation info
Gene ERCC3
CLNDBN Trichothiodystrophy 2, photosensitive
Reversed 1
HGVS NC_000002.11:g.128050302T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018052.28,