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rs121917900

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917900(A;A)
Make rs121917900(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position49500673
GeneERCC6
is asnp
is mentioned by
dbSNPrs121917900
ebirs121917900
HLIrs121917900
Exacrs121917900
Varsomers121917900
Maprs121917900
PheGenIrs121917900
hapmaprs121917900
1000 genomesrs121917900
hgdprs121917900
ensemblrs121917900
gopubmedrs121917900
geneviewrs121917900
scholarrs121917900
googlers121917900
pharmgkbrs121917900
gwascentralrs121917900
openSNPrs121917900
23andMers121917900
23andMe allrs121917900
SNP Nexus

SNPshotrs121917900
SNPdbers121917900
MSV3drs121917900
GWAS Ctlgrs121917900
Max Magnitude0
OMIM609413
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917900(A;A)
Alt rs121917900(A;A)
Reference rs121917900(G;G)
Significance Pathogenic
Disease Cockayne syndrome B
Variation info
Gene ERCC6
CLNDBN Cockayne syndrome B
Reversed 1
HGVS NC_000010.10:g.50708719C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001768.3,