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rs121917901

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917901(C;T)
Make rs121917901(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position49478437
GeneERCC6
is asnp
is mentioned by
dbSNPrs121917901
ebirs121917901
HLIrs121917901
Exacrs121917901
Varsomers121917901
Maprs121917901
PheGenIrs121917901
hapmaprs121917901
1000 genomesrs121917901
hgdprs121917901
ensemblrs121917901
gopubmedrs121917901
geneviewrs121917901
scholarrs121917901
googlers121917901
pharmgkbrs121917901
gwascentralrs121917901
openSNPrs121917901
23andMers121917901
23andMe allrs121917901
SNP Nexus

SNPshotrs121917901
SNPdbers121917901
MSV3drs121917901
GWAS Ctlgrs121917901
Max Magnitude0
OMIM609413
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121917901(T;T)
Alt rs121917901(T;T)
Reference rs121917901(C;C)
Significance Pathogenic
Disease Cockayne syndrome B DE SANCTIS-CACCHIONE SYNDROME
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B DE SANCTIS-CACCHIONE SYNDROME
Reversed 1
HGVS NC_000010.10:g.50686483G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001769.4, RCV000001770.4,