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rs202080674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202080674(A;A)
Make rs202080674(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position49482848
GeneERCC6
is asnp
is mentioned by
dbSNPrs202080674
dbSNP (classic)rs202080674
ClinGenrs202080674
ebirs202080674
HLIrs202080674
Exacrs202080674
Gnomadrs202080674
Varsomers202080674
LitVarrs202080674
Maprs202080674
PheGenIrs202080674
Biobankrs202080674
1000 genomesrs202080674
hgdprs202080674
ensemblrs202080674
geneviewrs202080674
scholarrs202080674
googlers202080674
pharmgkbrs202080674
gwascentralrs202080674
openSNPrs202080674
23andMers202080674
SNPshotrs202080674
SNPdbers202080674
MSV3drs202080674
GWAS Ctlgrs202080674
Max Magnitude0
ClinVar
Risk rs202080674(A;A)
Alt rs202080674(A;A)
Reference Rs202080674(G;G)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 0
HGVS NC_000010.10:g.50690894G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000170376.1,