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rs786205167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786205167(-;G)
Make rs786205167(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49483487
GeneERCC6
is asnp
is mentioned by
dbSNPrs786205167
dbSNP (classic)rs786205167
ClinGenrs786205167
ebirs786205167
HLIrs786205167
Exacrs786205167
Gnomadrs786205167
Varsomers786205167
LitVarrs786205167
Maprs786205167
PheGenIrs786205167
Biobankrs786205167
1000 genomesrs786205167
hgdprs786205167
ensemblrs786205167
geneviewrs786205167
scholarrs786205167
googlers786205167
pharmgkbrs786205167
gwascentralrs786205167
openSNPrs786205167
23andMers786205167
SNPshotrs786205167
SNPdbers786205167
MSV3drs786205167
GWAS Ctlgrs786205167
Max Magnitude0
ClinVar
Risk rs786205167(G;G)
Alt rs786205167(G;G)
Reference Rs786205167(-;-)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50691534dupC
CLNSRC
CLNACC RCV000170366.1,