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rs121434570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434570(G;T)
Make rs121434570(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position102872397
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs121434570
dbSNP (classic)rs121434570
ClinGenrs121434570
ebirs121434570
HLIrs121434570
Exacrs121434570
Gnomadrs121434570
Varsomers121434570
LitVarrs121434570
Maprs121434570
PheGenIrs121434570
Biobankrs121434570
1000 genomesrs121434570
hgdprs121434570
ensemblrs121434570
geneviewrs121434570
scholarrs121434570
googlers121434570
pharmgkbrs121434570
gwascentralrs121434570
openSNPrs121434570
23andMers121434570
SNPshotrs121434570
SNPdbers121434570
MSV3drs121434570
GWAS Ctlgrs121434570
Max Magnitude0
OMIM133530
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434570(A;A) rs121434570(T;T)
Alt rs121434570(A;A) rs121434570(T;T)
Reference Rs121434570(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.103524747G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018034.25,