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rs121913050

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913050(C;C)
Make rs121913050(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position13926630
GeneERCC4
is asnp
is mentioned by
dbSNPrs121913050
ebirs121913050
HLIrs121913050
Exacrs121913050
Varsomers121913050
Maprs121913050
PheGenIrs121913050
hapmaprs121913050
1000 genomesrs121913050
hgdprs121913050
ensemblrs121913050
gopubmedrs121913050
geneviewrs121913050
scholarrs121913050
googlers121913050
pharmgkbrs121913050
gwascentralrs121913050
openSNPrs121913050
23andMers121913050
23andMe allrs121913050
SNP Nexus

SNPshotrs121913050
SNPdbers121913050
MSV3drs121913050
GWAS Ctlgrs121913050
Max Magnitude0
OMIM133520
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913050(A,C;A,C)
Alt rs121913050(A,C;A,C)
Reference rs121913050(G;G)
Significance Pathogenic
Disease XFE progeroid syndrome
Variation info
Gene ERCC4
CLNDBN XFE progeroid syndrome
Reversed 0
HGVS NC_000016.9:g.14020487G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018049.28,