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rs121434324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434324(G;T)
Make rs121434324(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position60944972
GeneERCC8, NDUFAF2
is asnp
is mentioned by
dbSNPrs121434324
ebirs121434324
HLIrs121434324
Exacrs121434324
Varsomers121434324
Maprs121434324
PheGenIrs121434324
hapmaprs121434324
1000 genomesrs121434324
hgdprs121434324
ensemblrs121434324
gopubmedrs121434324
geneviewrs121434324
scholarrs121434324
googlers121434324
pharmgkbrs121434324
gwascentralrs121434324
openSNPrs121434324
23andMers121434324
23andMe allrs121434324
SNP Nexus

SNPshotrs121434324
SNPdbers121434324
MSV3drs121434324
GWAS Ctlgrs121434324
Max Magnitude0
OMIM609412
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434324(T;T)
Alt rs121434324(T;T)
Reference rs121434324(G;G)
Significance Pathogenic
Disease Cockayne syndrome type A
Variation info
Gene NDUFAF2 ERCC8
CLNDBN Cockayne syndrome type A
Reversed 1
HGVS NC_000005.9:g.60240799C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001786.3,