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rs151242354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151242354(A;A)
Make rs151242354(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position49482689
GeneERCC6
is asnp
is mentioned by
dbSNPrs151242354
dbSNP (classic)rs151242354
ClinGenrs151242354
ebirs151242354
HLIrs151242354
Exacrs151242354
Gnomadrs151242354
Varsomers151242354
LitVarrs151242354
Maprs151242354
PheGenIrs151242354
Biobankrs151242354
1000 genomesrs151242354
hgdprs151242354
ensemblrs151242354
geneviewrs151242354
scholarrs151242354
googlers151242354
pharmgkbrs151242354
gwascentralrs151242354
openSNPrs151242354
23andMers151242354
SNPshotrs151242354
SNPdbers151242354
MSV3drs151242354
GWAS Ctlgrs151242354
Max Magnitude0
ClinVar
Risk rs151242354(A;A)
Alt rs151242354(A;A)
Reference Rs151242354(G;G)
Significance Pathogenic
Disease Cockayne syndrome B not provided
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B not provided
Reversed 0
HGVS NC_000010.10:g.50690735G>A
CLNSRC
CLNACC RCV000170378.1, RCV000256036.1,