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rs121434571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434571(C;T)
Make rs121434571(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position102866687
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs121434571
ebirs121434571
HLIrs121434571
Exacrs121434571
Varsomers121434571
Maprs121434571
PheGenIrs121434571
hapmaprs121434571
1000 genomesrs121434571
hgdprs121434571
ensemblrs121434571
gopubmedrs121434571
geneviewrs121434571
scholarrs121434571
googlers121434571
pharmgkbrs121434571
gwascentralrs121434571
openSNPrs121434571
23andMers121434571
23andMe allrs121434571
SNP Nexus

SNPshotrs121434571
SNPdbers121434571
MSV3drs121434571
GWAS Ctlgrs121434571
Max Magnitude0
OMIM133530
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434571(T;T)
Alt rs121434571(T;T)
Reference rs121434571(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN Xeroderma pigmentosum, group G
Reversed 0
HGVS NC_000013.10:g.103519037C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018035.28,