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rs121434575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434575(C;C)
Make rs121434575(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position102868152
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs121434575
ebirs121434575
HLIrs121434575
Exacrs121434575
Varsomers121434575
Maprs121434575
PheGenIrs121434575
hapmaprs121434575
1000 genomesrs121434575
hgdprs121434575
ensemblrs121434575
gopubmedrs121434575
geneviewrs121434575
scholarrs121434575
googlers121434575
pharmgkbrs121434575
gwascentralrs121434575
openSNPrs121434575
23andMers121434575
23andMe allrs121434575
SNP Nexus

SNPshotrs121434575
SNPdbers121434575
MSV3drs121434575
GWAS Ctlgrs121434575
Max Magnitude0
OMIM133530
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121434575(C;C)
Alt rs121434575(C;C)
Reference rs121434575(T;T)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN Xeroderma pigmentosum, group G
Reversed 0
HGVS NC_000013.10:g.103520502T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018041.29,