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rs751838040

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs751838040(A;A)
Make rs751838040(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position49530797
GeneERCC6, ERCC6-PGBD3
is asnp
is mentioned by
dbSNPrs751838040
ebirs751838040
HLIrs751838040
Exacrs751838040
Varsomers751838040
Maprs751838040
PheGenIrs751838040
hapmaprs751838040
1000 genomesrs751838040
hgdprs751838040
ensemblrs751838040
gopubmedrs751838040
geneviewrs751838040
scholarrs751838040
googlers751838040
pharmgkbrs751838040
gwascentralrs751838040
openSNPrs751838040
23andMers751838040
23andMe allrs751838040
SNP Nexus

SNPshotrs751838040
SNPdbers751838040
MSV3drs751838040
GWAS Ctlgrs751838040
Max Magnitude0
ClinVar
Risk rs751838040(A;A)
Alt rs751838040(A;A)
Reference rs751838040(G;G)
Significance Pathogenic
Disease Cockayne syndrome B not provided
Variation info
Gene ERCC6-PGBD3 ERCC6
CLNDBN Cockayne syndrome B not provided
Reversed 0
HGVS NC_000010.10:g.50738843G>A
CLNSRC
CLNACC RCV000193828.1, RCV000224212.1,