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rs786205166

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786205166(-;T)
Make rs786205166(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49524149
GeneERCC6, PGBD3
is asnp
is mentioned by
dbSNPrs786205166
dbSNP (classic)rs786205166
ClinGenrs786205166
ebirs786205166
HLIrs786205166
Exacrs786205166
Gnomadrs786205166
Varsomers786205166
LitVarrs786205166
Maprs786205166
PheGenIrs786205166
Biobankrs786205166
1000 genomesrs786205166
hgdprs786205166
ensemblrs786205166
geneviewrs786205166
scholarrs786205166
googlers786205166
pharmgkbrs786205166
gwascentralrs786205166
openSNPrs786205166
23andMers786205166
SNPshotrs786205166
SNPdbers786205166
MSV3drs786205166
GWAS Ctlgrs786205166
Max Magnitude0
ClinVar
Risk rs786205166(T;T)
Alt rs786205166(T;T)
Reference Rs786205166(-;-)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6 PGBD3
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50732196dupA
CLNSRC
CLNACC RCV000170364.1,