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rs121434323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434323(A;A)
Make rs121434323(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position60890964
GeneERCC8
is asnp
is mentioned by
dbSNPrs121434323
ebirs121434323
HLIrs121434323
Exacrs121434323
Varsomers121434323
Maprs121434323
PheGenIrs121434323
hapmaprs121434323
1000 genomesrs121434323
hgdprs121434323
ensemblrs121434323
gopubmedrs121434323
geneviewrs121434323
scholarrs121434323
googlers121434323
pharmgkbrs121434323
gwascentralrs121434323
openSNPrs121434323
23andMers121434323
23andMe allrs121434323
SNP Nexus

SNPshotrs121434323
SNPdbers121434323
MSV3drs121434323
GWAS Ctlgrs121434323
Max Magnitude0
OMIM609412
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434323(A;A)
Alt rs121434323(A;A)
Reference rs121434323(C;C)
Significance Pathogenic
Disease Cockayne syndrome type A
Variation info
Gene ERCC8
CLNDBN Cockayne syndrome type A
Reversed 1
HGVS NC_000005.9:g.60186791G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001785.3,