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rs786205176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205176(-;-)
Make rs786205176(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position60928896
GeneERCC8
is asnp
is mentioned by
dbSNPrs786205176
dbSNP (classic)rs786205176
ClinGenrs786205176
ebirs786205176
HLIrs786205176
Exacrs786205176
Gnomadrs786205176
Varsomers786205176
LitVarrs786205176
Maprs786205176
PheGenIrs786205176
Biobankrs786205176
1000 genomesrs786205176
hgdprs786205176
ensemblrs786205176
geneviewrs786205176
scholarrs786205176
googlers786205176
pharmgkbrs786205176
gwascentralrs786205176
openSNPrs786205176
23andMers786205176
SNPshotrs786205176
SNPdbers786205176
MSV3drs786205176
GWAS Ctlgrs786205176
Max Magnitude0
ClinVar
Risk rs786205176(-;-)
Alt rs786205176(-;-)
Reference Rs786205176(C;C)
Significance Pathogenic
Disease Cockayne syndrome type A
Variation info
Gene ERCC8
CLNDBN Cockayne syndrome type A
Reversed 1
HGVS NC_000005.9:g.60224723delG
CLNSRC
CLNACC RCV000170394.1,