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rs387906262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906262(-;-)
Make rs387906262(-;A)
Make rs387906262(A;A)
ReferenceGRCh38 38.1/141
Chromosome10
Position49524457
GeneERCC6, ERCC6-PGBD3, PGBD3
is asnp
is mentioned by
dbSNPrs387906262
ebirs387906262
HLIrs387906262
Exacrs387906262
Varsomers387906262
Maprs387906262
PheGenIrs387906262
hapmaprs387906262
1000 genomesrs387906262
hgdprs387906262
ensemblrs387906262
gopubmedrs387906262
geneviewrs387906262
scholarrs387906262
googlers387906262
pharmgkbrs387906262
gwascentralrs387906262
openSNPrs387906262
23andMers387906262
23andMe allrs387906262
SNP Nexus

SNPshotrs387906262
SNPdbers387906262
MSV3drs387906262
GWAS Ctlgrs387906262
Max Magnitude0
ClinVar
Risk rs387906262(A;A)
Alt rs387906262(A;A)
Reference rs387906262(;)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6-PGBD3 ERCC6 PGBD3
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50732504dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001773.3,