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rs373227647

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs373227647(C;C)
Make rs373227647(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position49472472
GeneERCC6, LOC105378300
is asnp
is mentioned by
dbSNPrs373227647
ebirs373227647
HLIrs373227647
Exacrs373227647
Varsomers373227647
Maprs373227647
PheGenIrs373227647
hapmaprs373227647
1000 genomesrs373227647
hgdprs373227647
ensemblrs373227647
gopubmedrs373227647
geneviewrs373227647
scholarrs373227647
googlers373227647
pharmgkbrs373227647
gwascentralrs373227647
openSNPrs373227647
23andMers373227647
23andMe allrs373227647
SNP Nexus

SNPshotrs373227647
SNPdbers373227647
MSV3drs373227647
GWAS Ctlgrs373227647
Max Magnitude0
ClinVar
Risk rs373227647(C;C)
Alt rs373227647(C;C)
Reference rs373227647(T;T)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 0
HGVS NC_000010.10:g.50680518T>C
CLNSRC
CLNACC RCV000170381.1,