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rs121913048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913048(C;T)
Make rs121913048(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127279270
GeneERCC3
is asnp
is mentioned by
dbSNPrs121913048
ebirs121913048
HLIrs121913048
Exacrs121913048
Varsomers121913048
Maprs121913048
PheGenIrs121913048
hapmaprs121913048
1000 genomesrs121913048
hgdprs121913048
ensemblrs121913048
gopubmedrs121913048
geneviewrs121913048
scholarrs121913048
googlers121913048
pharmgkbrs121913048
gwascentralrs121913048
openSNPrs121913048
23andMers121913048
23andMe allrs121913048
SNP Nexus

SNPshotrs121913048
SNPdbers121913048
MSV3drs121913048
GWAS Ctlgrs121913048
Max Magnitude0
OMIM133510
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913048(T;T)
Alt rs121913048(T;T)
Reference rs121913048(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC3
CLNDBN Xeroderma pigmentosum, complementation group b
Reversed 1
HGVS NC_000002.11:g.128036846G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018056.28,