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rs527236039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs527236039(-;-)
Make rs527236039(-;A)
ReferenceGRCh38 38.1/142
Chromosome10
Position49530716
GeneERCC6, ERCC6-PGBD3
is asnp
is mentioned by
dbSNPrs527236039
ebirs527236039
HLIrs527236039
Exacrs527236039
Varsomers527236039
Maprs527236039
PheGenIrs527236039
hapmaprs527236039
1000 genomesrs527236039
hgdprs527236039
ensemblrs527236039
gopubmedrs527236039
geneviewrs527236039
scholarrs527236039
googlers527236039
pharmgkbrs527236039
gwascentralrs527236039
openSNPrs527236039
23andMers527236039
23andMe allrs527236039
SNP Nexus

SNPshotrs527236039
SNPdbers527236039
MSV3drs527236039
GWAS Ctlgrs527236039
Max Magnitude0
ClinVar
Risk rs527236039(;)
Alt rs527236039(;)
Reference rs527236039(A;A)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6-PGBD3 ERCC6
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50738762delT
CLNSRC ClinVar
CLNACC RCV000132720.1,