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rs765825423

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs765825423(-;-)
Make rs765825423(-;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position49461382
GeneERCC6, LOC105378300
is asnp
is mentioned by
dbSNPrs765825423
ebirs765825423
HLIrs765825423
Exacrs765825423
Varsomers765825423
Maprs765825423
PheGenIrs765825423
hapmaprs765825423
1000 genomesrs765825423
hgdprs765825423
ensemblrs765825423
gopubmedrs765825423
geneviewrs765825423
scholarrs765825423
googlers765825423
pharmgkbrs765825423
gwascentralrs765825423
openSNPrs765825423
23andMers765825423
23andMe allrs765825423
SNP Nexus

SNPshotrs765825423
SNPdbers765825423
MSV3drs765825423
GWAS Ctlgrs765825423
Max Magnitude0
ClinVar
Risk rs765825423(;)
Alt rs765825423(;)
Reference rs765825423(CT;CT)
Significance Probable-Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 0
HGVS NC_000010.10:g.50669428_50669429delCT
CLNSRC
CLNACC RCV000170390.1,