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rs121434326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434326(C;C)
Make rs121434326(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position60902446
GeneERCC8
is asnp
is mentioned by
dbSNPrs121434326
ebirs121434326
HLIrs121434326
Exacrs121434326
Varsomers121434326
Maprs121434326
PheGenIrs121434326
hapmaprs121434326
1000 genomesrs121434326
hgdprs121434326
ensemblrs121434326
gopubmedrs121434326
geneviewrs121434326
scholarrs121434326
googlers121434326
pharmgkbrs121434326
gwascentralrs121434326
openSNPrs121434326
23andMers121434326
23andMe allrs121434326
SNP Nexus

SNPshotrs121434326
SNPdbers121434326
MSV3drs121434326
GWAS Ctlgrs121434326
Max Magnitude0
OMIM609412
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434326(C;C)
Alt rs121434326(C;C)
Reference rs121434326(G;G)
Significance Pathogenic
Disease Cockayne syndrome type A not provided
Variation info
Gene ERCC8
CLNDBN Cockayne syndrome type A not provided
Reversed 1
HGVS NC_000005.9:g.60198273C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000001788.3, RCV000059650.1,


[PMID 14661080] CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.