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rs786205175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205175(-;-)
Make rs786205175(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49460428
GeneERCC6
is asnp
is mentioned by
dbSNPrs786205175
dbSNP (classic)rs786205175
ClinGenrs786205175
ebirs786205175
HLIrs786205175
Exacrs786205175
Gnomadrs786205175
Varsomers786205175
LitVarrs786205175
Maprs786205175
PheGenIrs786205175
Biobankrs786205175
1000 genomesrs786205175
hgdprs786205175
ensemblrs786205175
geneviewrs786205175
scholarrs786205175
googlers786205175
pharmgkbrs786205175
gwascentralrs786205175
openSNPrs786205175
23andMers786205175
SNPshotrs786205175
SNPdbers786205175
MSV3drs786205175
GWAS Ctlgrs786205175
Max Magnitude0
ClinVar
Risk rs786205175(-;-)
Alt rs786205175(-;-)
Reference Rs786205175(A;A)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50668474delT
CLNSRC
CLNACC RCV000170391.1,