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rs767247987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs767247987(G;T)
Make rs767247987(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position49483384
GeneERCC6
is asnp
is mentioned by
dbSNPrs767247987
dbSNP (classic)rs767247987
ClinGenrs767247987
ebirs767247987
HLIrs767247987
Exacrs767247987
Gnomadrs767247987
Varsomers767247987
LitVarrs767247987
Maprs767247987
PheGenIrs767247987
Biobankrs767247987
1000 genomesrs767247987
hgdprs767247987
ensemblrs767247987
geneviewrs767247987
scholarrs767247987
googlers767247987
pharmgkbrs767247987
gwascentralrs767247987
openSNPrs767247987
23andMers767247987
SNPshotrs767247987
SNPdbers767247987
MSV3drs767247987
GWAS Ctlgrs767247987
Max Magnitude0
ClinVar
Risk rs767247987(A;A) rs767247987(T;T)
Alt rs767247987(A;A) rs767247987(T;T)
Reference Rs767247987(G;G)
Significance Probable-Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 0
HGVS NC_000010.10:g.50691430G>A
CLNSRC
CLNACC RCV000170373.1,