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rs121434573

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434573(C;T)
Make rs121434573(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position102856110
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs121434573
ebirs121434573
HLIrs121434573
Exacrs121434573
Varsomers121434573
Maprs121434573
PheGenIrs121434573
hapmaprs121434573
1000 genomesrs121434573
hgdprs121434573
ensemblrs121434573
gopubmedrs121434573
geneviewrs121434573
scholarrs121434573
googlers121434573
pharmgkbrs121434573
gwascentralrs121434573
openSNPrs121434573
23andMers121434573
23andMe allrs121434573
SNP Nexus

SNPshotrs121434573
SNPdbers121434573
MSV3drs121434573
GWAS Ctlgrs121434573
Max Magnitude0
OMIM133530
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434573(T;T)
Alt rs121434573(T;T)
Reference rs121434573(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum group g/Cockayne syndrome
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN Xeroderma pigmentosum group g/Cockayne syndrome
Reversed 0
HGVS NC_000013.10:g.103508460C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018039.24,