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rs786205174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205174(C;T)
Make rs786205174(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49461431
GeneERCC6
is asnp
is mentioned by
dbSNPrs786205174
dbSNP (classic)rs786205174
ClinGenrs786205174
ebirs786205174
HLIrs786205174
Exacrs786205174
Gnomadrs786205174
Varsomers786205174
LitVarrs786205174
Maprs786205174
PheGenIrs786205174
Biobankrs786205174
1000 genomesrs786205174
hgdprs786205174
ensemblrs786205174
geneviewrs786205174
scholarrs786205174
googlers786205174
pharmgkbrs786205174
gwascentralrs786205174
openSNPrs786205174
23andMers786205174
SNPshotrs786205174
SNPdbers786205174
MSV3drs786205174
GWAS Ctlgrs786205174
Max Magnitude0
ClinVar
Risk rs786205174(T;T)
Alt rs786205174(T;T)
Reference Rs786205174(C;C)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50669477G>A
CLNSRC
CLNACC RCV000170389.1,