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rs121917902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917902(C;T)
Make rs121917902(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49524073
GeneERCC6, PGBD3
is asnp
is mentioned by
dbSNPrs121917902
ebirs121917902
HLIrs121917902
Exacrs121917902
Varsomers121917902
Maprs121917902
PheGenIrs121917902
hapmaprs121917902
1000 genomesrs121917902
hgdprs121917902
ensemblrs121917902
gopubmedrs121917902
geneviewrs121917902
scholarrs121917902
googlers121917902
pharmgkbrs121917902
gwascentralrs121917902
openSNPrs121917902
23andMers121917902
23andMe allrs121917902
SNP Nexus

SNPshotrs121917902
SNPdbers121917902
MSV3drs121917902
GWAS Ctlgrs121917902
Max Magnitude0
OMIM609413
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121917902(T;T)
Alt rs121917902(T;T)
Reference rs121917902(C;C)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6-PGBD3 ERCC6 PGBD3
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50732119G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001772.3,