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rs121434325

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434325(C;T)
Make rs121434325(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position60904794
GeneERCC8
is asnp
is mentioned by
dbSNPrs121434325
ebirs121434325
HLIrs121434325
Exacrs121434325
Varsomers121434325
Maprs121434325
PheGenIrs121434325
hapmaprs121434325
1000 genomesrs121434325
hgdprs121434325
ensemblrs121434325
gopubmedrs121434325
geneviewrs121434325
scholarrs121434325
googlers121434325
pharmgkbrs121434325
gwascentralrs121434325
openSNPrs121434325
23andMers121434325
23andMe allrs121434325
SNP Nexus

SNPshotrs121434325
SNPdbers121434325
MSV3drs121434325
GWAS Ctlgrs121434325
Max Magnitude0
OMIM609412
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434325(T;T)
Alt rs121434325(T;T)
Reference rs121434325(C;C)
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.60200621G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000001787.3, RCV000059647.1,


[PMID 15744458] Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.