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rs121434574

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434574(A;A)
Make rs121434574(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position102852244
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs121434574
ebirs121434574
HLIrs121434574
Exacrs121434574
Varsomers121434574
Maprs121434574
PheGenIrs121434574
hapmaprs121434574
1000 genomesrs121434574
hgdprs121434574
ensemblrs121434574
gopubmedrs121434574
geneviewrs121434574
scholarrs121434574
googlers121434574
pharmgkbrs121434574
gwascentralrs121434574
openSNPrs121434574
23andMers121434574
23andMe allrs121434574
SNP Nexus

SNPshotrs121434574
SNPdbers121434574
MSV3drs121434574
GWAS Ctlgrs121434574
Max Magnitude0
OMIM133530
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434574(A,T;A,T)
Alt rs121434574(A,T;A,T)
Reference rs121434574(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.103504594C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018040.28,