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rs1043679457

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1043679457(C;G)
Make rs1043679457(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position60927745
GeneERCC8
is asnp
is mentioned by
dbSNPrs1043679457
dbSNP (old)rs1043679457
ClinGenrs1043679457
ebirs1043679457
HLIrs1043679457
Exacrs1043679457
Gnomadrs1043679457
Varsomers1043679457
Maprs1043679457
PheGenIrs1043679457
Biobankrs1043679457
1000 genomesrs1043679457
hgdprs1043679457
ensemblrs1043679457
gopubmedrs1043679457
geneviewrs1043679457
scholarrs1043679457
googlers1043679457
pharmgkbrs1043679457
gwascentralrs1043679457
openSNPrs1043679457
23andMers1043679457
23andMe allrs1043679457
SNPshotrs1043679457
SNPdbers1043679457
MSV3drs1043679457
GWAS Ctlgrs1043679457
Max Magnitude0
ClinVar
Risk rs1043679457(A;A) rs1043679457(G;G)
Alt rs1043679457(A;A) rs1043679457(G;G)
Reference Rs1043679457(C;C)
Significance Pathogenic
Disease Cockayne syndrome type A
Variation info
Gene ERCC8
CLNDBN Cockayne syndrome type A
Reversed 0
HGVS NC_000005.9:g.60223572C>G
CLNSRC
CLNACC RCV000449643.1,