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rs121434577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434577(C;T)
Make rs121434577(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position102854313
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs121434577
ebirs121434577
HLIrs121434577
Exacrs121434577
Varsomers121434577
Maprs121434577
PheGenIrs121434577
hapmaprs121434577
1000 genomesrs121434577
hgdprs121434577
ensemblrs121434577
gopubmedrs121434577
geneviewrs121434577
scholarrs121434577
googlers121434577
pharmgkbrs121434577
gwascentralrs121434577
openSNPrs121434577
23andMers121434577
23andMe allrs121434577
SNP Nexus

SNPshotrs121434577
SNPdbers121434577
MSV3drs121434577
GWAS Ctlgrs121434577
Max Magnitude0
OMIM133530
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121434577(T;T)
Alt rs121434577(T;T)
Reference rs121434577(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.103506663C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018046.29,