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rs797045562

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045562(-;T)
Make rs797045562(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49524579
GeneERCC6, PGBD3
is asnp
is mentioned by
dbSNPrs797045562
dbSNP (classic)rs797045562
ClinGenrs797045562
ebirs797045562
HLIrs797045562
Exacrs797045562
Gnomadrs797045562
Varsomers797045562
LitVarrs797045562
Maprs797045562
PheGenIrs797045562
Biobankrs797045562
1000 genomesrs797045562
hgdprs797045562
ensemblrs797045562
geneviewrs797045562
scholarrs797045562
googlers797045562
pharmgkbrs797045562
gwascentralrs797045562
openSNPrs797045562
23andMers797045562
SNPshotrs797045562
SNPdbers797045562
MSV3drs797045562
GWAS Ctlgrs797045562
Max Magnitude0
ClinVar
Risk rs797045562(T;T)
Alt rs797045562(T;T)
Reference Rs797045562(-;-)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6 PGBD3
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50732625_50732626insA
CLNSRC
CLNACC RCV000194098.1,