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rs121434576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434576(A;A)
Make rs121434576(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position102868199
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs121434576
ebirs121434576
HLIrs121434576
Exacrs121434576
Varsomers121434576
Maprs121434576
PheGenIrs121434576
hapmaprs121434576
1000 genomesrs121434576
hgdprs121434576
ensemblrs121434576
gopubmedrs121434576
geneviewrs121434576
scholarrs121434576
googlers121434576
pharmgkbrs121434576
gwascentralrs121434576
openSNPrs121434576
23andMers121434576
23andMe allrs121434576
SNP Nexus

SNPshotrs121434576
SNPdbers121434576
MSV3drs121434576
GWAS Ctlgrs121434576
Merged fromRs28929496
Max Magnitude0
OMIM133530
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121434576(A;A)
Alt rs121434576(A;A)
Reference rs121434576(G;G)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN Xeroderma pigmentosum, group G
Reversed 0
HGVS NC_000013.10:g.103520549G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018045.29,